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Report date: 23 September 2019

Top Level Haplogroup Markers

All markers shown, except those in parentheses, are present at ≥80% in the top level haplogroups of the current Mitomap dataset. Parentheses indicate variants which are ≥50% but <80%. Lowercase letters indicate transversions (e.g., 3516a). Ancestral variants which also serve as top level haplogroup branch markers in Phylotree are shown in italics. Markers matching the rCRS reference value are indicated with "=" (e.g., 263A=); while these latter markers are important to delineate the haplogroup in the phylogenetic tree, they will not usually be listed in genetic test reports because they are identical to the reference rCRS sequence. There are twelve high frequency ancestral variants in this table that are extremely common across all lineages and, as such, are not generally informative for haplotyping. Conversely, the lack of one or more of these variants may be more of use. These variants are 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G, & 16519C. For lineage distribution, see https://www.mitomap.org/MITOMAP/TopVariants.

NEW For markers found at the letter-number-letter haplogroup level click here.

Lineage Top Level Haplogroup # Seqs Ancestral Marker Motif
(the " RSRS50")
HG Markers Other Selected Markers
L L0 1500 247A, 750G, 769A, 825a, 1018A, 2758A, 2885C, 3594T, 4104G, 4312T, 4769G, 7028T, 7146G, 7256T, 7521A, 8468T, 8655T, 8701G, 8860G, 9540C, 10398G, 10664T, 10688A, 10810C, 10873C, 10915C, 11719A, 11914A, 12705T, 13105G, 13276G, 13506T, 13650T, 14766T, 15326G, 16187T, 16189C, 16223T, 16230G, 16311C

(73G, 146C, 152C, 195C, 1438G, 2706G, 16519C)

1048T, 3516a, 5442C, 6185C, 9042T, 9347G, 9755A, 10589A, 12007A, 12720G

(189G, 514_515delCA, 4586C, 5460A, 9818T, 16172C)
(263A=)
L L1 878 73G, 152C, 195C, 247A, 263G, 750G, 769A, 825a, 1018A, 2706G, 2758A, 2885C, 3594T, 4104G, 4769G, 7028T, 7146G, 7256T, 7521A, 8468T, 8655T, 8701G, 8860G, 9540C, 10398G, 10688A, 10810C, 10873C, 11719A, 12705T, 13105G, 13506T, 13650T, 14766T, 15326G, 16187T, 16189C, 16223T, 16278T, 16311C, 16519C

(1438G, 16129A)

182T, 3666A, 7055G, 7389C, 13789C, 14178C, 14560A

(151T, 186A, 189C, 316A, 514_515delCA, 2394del, 5951G, 6071C, 8027A, 9072G, 10321C, 10586A, 12810G, 13485G, 14000a, 14911T, 16294T, 16360T)
L L5 39 73G, 152C, 247A, 263G, 750G, 769A, 825a, 1018A, 1438G, 2706G, 3594T, 4104G, 4769G, 7028T, 7256T, 7521A, 8655T, 8701G, 8860G, 9540C, 10398G, 10688A, 10810C, 10873C, 11719A, 12705T, 13506T, 13650T, 14766T, 15326G, 16129A, 16223T, 16278T, 16311C

(195C, 13105G, 16189C)
182T, 709A, 851G, 1822C, 3423C, 5111T, 5147A, 6182A, 6297C, 7972G, 8155A, 8188G, 8582T, 9305A, 11025C, 11881T, 12236A, 12432T, 12950G, 13722G, 14212C, 14239T, 14581C, 14905A, 14971C, 15217A, 15884A, 16148T, 16166G

(514_515delCA, 5656G, 7424G, 9329A, 16183c, 16355T, 16362C)

Length variants in the 455-459 region [459CC or 455TTC or 455TTTC]
L L2 1322 73G, 146C, 152C, 195C, 263G, 750G, 769A, 1018A, 1438G, 2706G, 3594T, 4104G, 4769G, 7028T, 7256T, 7521A, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 13650T, 14766T, 15326G, 16223T, 16278T

(11914A)

146C, 152C, 2416C, 8206A, 9221G, 10115C, 11944C, 13590A, 15301A, 16390A

(2789T, 7175C, 7274T, 7771G, 12693G, 13803G, 14566G, 15784C, 16294T, 16309G)
150C=, 16311T=
L L6 12 73G, 146C, 152C, 263G, 750G, 769A, 1018A, 1438G, 2706G, 3594T, 4769G, 7028T, 7256T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 13650T, 14766T, 15326G, 16223T, 16278T, 16311C, 16519C 146C, 152C, 182T, 185c, 709A, 770T, 961C, 1461G, 4964T, 5267C, 6002G, 6284G, 9332T, 10978G, 11116C, 11743T, 12771A, 13710G, 14791T, 14959G, 15244G, 15289C, 15301A, 15499T, 16048A, 16224C

(265C, [309_310insCT +310C, 310C +310_311insTC, or 315insC])

L L4 105 73G, 263G, 750G, 769A, 1018A, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16223T, 16311C

(146C, 16519C)

3918A, 15301A, 16362C

(244G, 315insC, 1413C, 8104C, 9855G, 12609C, 13470G, 16293t, 16355T, 16399G)
3594C=
Additional markers for branches: L4b2: 146C
L L3 2135 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16223T

(16519C)

15301A

(150T)
769G=, 1018G=, 3594C=, 16311T=
M M 5258 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16223T

(16519C)
489C, 10400T, 14783C, 15043A, 15301A Additional markers for branches:

M7: 4071T, 6455T, 9824C (199C).

M8: 4715G, 6179A, 7196A, 8584A, 8684T, 14470C, 15487T, 16298C, 16319A (310C, 2835T, 16184T). Haplogroups C & Z are in the M8 branch.

M9: 1041G, 3394C, 4491A, 14308C, 16234T, 16362C (16316G). Haplogroup E is in the M9 branch.
M Q 177 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16129A, 16311C

(146C, 16223T)
489C, 4117C, 5460A, 5843G, 8790A, 10400T, 12940A, 13500C, 14783C, 15043A, 15301A, 16241G

(89C, 92A, 8964T, 14025C, 16144C, 16148T, 16265c, 16343G)
M C 1651 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 11914A, 12705T, 14766T, 15326G, 16223T

(16519C)

248del or 249del, 489C, 3552a, 4715G, 7196a, 8584A, 9545G, 10400T, 13263G, 14318C, 14783C, 15043A, 15301A, 15487t, 16223T, 16298C, 16327T

M Z 194 73G, 152C, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16223T

(16519C)

248del or 249del, 489C, 4715G, 6752G, 7196a, 8584A, 9090C, 10400T, 14783C, 15043A, 15301A, 15487t, 15784C, 16185T, 16223T, 16260T, 16298C


M E 457 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 15326G, 16223T, 16519C 489C, 3027C, 3705A, 4248C, 4491A, 7598A, 10400T, 10834T, 13254C, 13626T, 14577C, 14783C, 15043A, 15301A, 16362C, 16390A

(6620C, 16291T)

M G 439 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16223T

489C, 709A, 4833G, 5108C, 10400T, 14569A, 14783C, 15043A, 15301A, 16362C

(5601T, 9575A, 13563G)

M D 2364 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16223T

489C, 3010A, 4883T, 5178a, 8414T, 10400T, 14668T, 14783C, 15043A, 15301A, 16223T, 16362C, 16223T

N N 793

73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G, 16223T

(16519C)

- 8701A=, 9540T=, 10398A=, 10400C=, 10873T=, 15301G=

Additional markers for branches:

N1: 1719A, 10238C, 12501A (152C). Haplogroup I is in the N1 branch.

N2: 150T (195C, 335d, 6752G, 8701G, 10583G, 13437C, 14560A, 16193T). Haplogroup W is in the N2 branch.

N9: 150T, 5231A, 5417A, 12358G, 12372A, 16257A (310C, 16261T). Haplogroup Y is in the N9 branch.
N O 8 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G, 16223T

(152C, 16189C, 16519C)

6755A, 9140T, 16213A

(794C, 5563A, 16183c)

N S 49 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G

(152C, 16223T)

8404C
N I 725 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 10398G, 11719A, 12705T, 14766T, 15326G, 16129A, 16223T, 16519C

199C, 204C, 250C, 1719A, 4529t, 8251A, 10034C, 10238C, 12501A, 13780G, 15043A, 15924G, 16129A, 16223T, 16391A
N W 533 73G, 195C, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G, 16223T, 16519C 189G, 195C, 204C, 207A, 709A, 1243C, 3505G, 5046A, 5460A, 8251A, 8994A, 11674T, 11947G, 12414C, 15884c, 16292T

(194T)

N Y 135 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 10398G, 11719A, 12705T, 14766T, 15326G

(146C, 16519C)
5417A, 8392A, 10398G, 14178C, 14693G, 16126C, 16231C

(310C, 3834A, 7933G)
16223C=

Additional markers for branch Y1:146C, 3834A, 7933G (16189C, 16266T)
N A 1387 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G, 16223T

(146C)

235G, 514_515delCA, 663G, 1736G, 4248C, 4824G, 8794T, 16223T, 16290T, 16319A, 16362C

(153G, 310C, 8027A, 12007A, 16111T)

N X 473 73G, 195C, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G, 16189C, 16223T, 16278T, 16519C 1719A, 6221C, 6371T, 13966G, 14470C, 16189C, 16223T, 16278T

(153G, 225A, 16183c)

Additional markers for branch X1: 146C, 14587G (7337A); absent in X1: 195C, 225A, 1719A
N R 1082 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 14766T, 15326G

(73G, 11719A, 16519C)
- 12705C=, 16223C=

Additional markers for branches:

R0:64T, 2442C, 3847C, 13188T, 16362C (310C, 16126C). Haplogroups HV, H, & V are in the R0 branch.

R9: 73G, 3970T, 11719A, 13928c, 16304C (1541C, 12714C, 16309G, 16390A). Haplogroup F is in the R9 branch.
N P 142 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G

(16519C)

15607G  
N HV 747 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 15326G (310C)

14766C=
N H 9220 263G, 750G, 1438G, 4769G, 8860G, 15326G

(16519C)

- 2706A=, 7028C=
N V 693 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 15326G 72C, 4580A, 15904T, 16298C

(310C)

N J 2337 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 10398G, 11719A, 14766T, 15326G 295T, 489C, 4216C, 11251G, 12612G, 13708A, 15452a, 16069T, 16126C

(462T, 3010A, 14798C)

N T 2257 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G, 16519C 709A, 1888A, 4216C, 4917G, 8697A, 10463C, 11251G, 13368A, 14905A, 15452a, 15607G, 15928A, 16126C, 16294T

(11812G, 14233G)

10398A=
N F 1663 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G

(16129A, 16519C)

248del or 249del, 3970T, 6392C, 10310A, 13928C, 16304C

(514_515delCA, 6962A, 9053A, 10609C, 12406A, 12882T, 13759A, 16172C)

N B 4254 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G, 16189C, 16519C

(146C)
16183c, 16189C, 16217C

(16182c, 16261T)
Additional markers for branches:

B2: 8271 9bp deletion [8271_8279del or 8281_8289del], 146T=, 499A, 827G, 3547G, 4820A, 4977C, 6473T, 9950C, 10398A=, 11177T, 13590A, 15535T (310C)

B4: (8271 9bp deletion [8271_8279del or 8281_8289del], 514_515delCA, 5465C, 6719C, 9123A, 10238C, 10398A=, 12239T, 14022G, 15746G, 16182c, 16247G, 16261T)

B5: 146T=, 709A, 8584A, 9950C, 10398G, 16140C, 16217T= (210G, 514_515delCA, 3537G, 6960T, 15235G, 16266a)
N U 4258 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G

11467G, 12308G, 12372A
N K 1831 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 10398G, 11719A, 14766T, 15326G, 16311C, 16519C 1189C, 1811G, 3480G, 9055A, 9698C, 10550G, 11299C, 11467G, 12308G, 12372A, 14167T, 14798C, 16224C, 16311C

(315insC, 497T)

Ancestral SNPs are spread throughout the human mtDNA tree. These ancestral variants, the "RSRS50", are: 73G, 146C, 152C, 195C, 247A, 263G, 750G, 769A, 825A, 1018A, 1438G, 2706G, 2758A, 2885C, 3594T, 4104G, 4312T, 4769G, 7028T, 7146G, 7256T, 7521A, 8468T, 8655T, 8701G, 8860G, 9540C, 10398G, 10664T, 10688A, 10810C, 10873C, 10915C, 11719A, 11914A, 12705T, 13105G, 13276G, 13506T, 13650T, 14766T, 15326G, 16129A, 16187T, 16189C, 16223T, 16230G, 16278T, 16311C, 16519C. The most widespread across all lineages are shown in bold.

Additionally, the RSRS ancestor sequence has two single base deletions, 523d & 524d, which are located at the end of a string of CA repeats. Indels in this region are variously notated and common. These two deleted bases are not indexed in Mitomap's "RSRS50" set and are among those variants specifically excluded by Phylotree in the construction of their master tree.

Topic revision: r28 - 24 Sep 2019, MarieLott

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