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 markers ≥50% but <80%. Lowercase letters indicate transversions (e.g., 3516a). Ancestral variants which also serve as top level haplogroup markers 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.

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Lineage Top Level Haplogroup # Seqs Ancestral Marker Motif
(the " RSRS50")
HG Markers Other Markers
L L0 1461 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_515del, 4586C, 5460A, 9818T, 16172C) (263A=)
L L1 866 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_515del, 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_515del, 5656G, 7424G, 9329A, 16183c, 16355T, 16362C) Length variants in the 455-459 region [459CC or 455TTC or 455TTTC]
L L2 1297 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, 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 103 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: L4a: 195C, 5460A; L4b2: 146C
L L3 2111 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8701G, 8860G, 9540C, 10398G, 10873C, 11719A, 12705T, 14766T, 15326G, 16223T (16519C) 15301A (150T, 514_515del) 769G=, 1018G=, 3594C=, 16311T=
M M 4781 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, 514CA>d).

M8: 4715G, 6179A, 7196A, 8584A, 8684T, 14470C, 15487T, 16298C, 16319A (309CCT, 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 174 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 1549 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, 16298C, 16327T (310C)
M Z 177 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, 16260T, 16298C (151T)
M E 449 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 332 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 2062 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, 16362C
N N 661 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 47 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G (152C, 16223T) 8404C
N I 615 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, 16391A
N W 457 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, 310C)
N Y 127 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
N A 1252 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G, 16223T (146C) 235G, 514_515del, 663G, 1736G, 4248C, 4824G, 8794T, 16290T, 16319A, 16362C (153G, 310C, 8027A, 12007A, 16111T)
N X 416 73G, 195C, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 12705T, 14766T, 15326G, 16189C, 16223T, 16278T, 16519C 153G, 1719A, 6221C, 6371T, 13966G, 14470C, 16189C, 16278T (225A, 16183c) Additional markers for branch X1: 146C, 14587G, 16183c (16223T); absent in X1: 195C, 225A, 1719A, 16189T, 16278T
N R 870 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). Haplogroup F is in the R9 branch.
N P 142 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G (152C, 16519C) 15607G  
N HV 629 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 15326G (310C) 14766C=
N H 8218 263G, 750G, 1438G, 4769G, 8860G, 15326G (16519C) - 2706A=, 7028C=
N V 603 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 15326G 72C, 4580A, 15904T, 16298C (310C)
N J 2095 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 1935 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 1251 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G (16129A, 16519C) 248del or 249del, 3970T, 6392C, 10310A, 13928C (514_515del, 6962A, 10609C, 12406A, 12882T, 13759A, 16304C)
N B/B4'5 3528 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G, 16189C, 16519C (146C) 8270_8280del or 8280_8290del, 16183C, 16217C (5465C, 6719C, 9123A, 10238C, 12239T, 15746G, 16182C, 16261T)
N U 3712 73G, 263G, 750G, 1438G, 2706G, 4769G, 7028T, 8860G, 11719A, 14766T, 15326G 11467G, 12308G, 12372A
N K 1684 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 (315insC, 497T)

* Ancestral SNPs are common 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. 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.

This topic: MITOMAP > HaplogroupMarkers
Topic revision: 14 Sep 2018, MarieLott
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