Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[81511525A>T;81511527A>G;81511565A>G] , CM000679.2:g.[81511525A>T;81511527A>G;81511565A>G]	GRCh38
NC_000017.10:g.[79478551A>T;79478553A>G;79478591A>G] , CM000679.1:g.[79478551A>T;79478553A>G;79478591A>G]	GRCh37
NC_000017.9:g.[77093146A>T;77093148A>G;77093186A>G]	NCBI36
NG_011433.1:g.[6237T>C;6275T>C;6277T>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.[425T>C;463T>C;465T>A]	ENSP00000466346.2:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000571691.6:c.[353T>C;391T>C;393T>A]	ENSP00000461407.2:p.[Leu118Pro;Ser131Pro;Ser131=]
ENST00000571721.6:c.[425T>C;463T>C;465T>A]	ENSP00000460660.2:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000572105.7:c.[466T>C;504T>C;506T>A]	ENSP00000462823.1:p.[Ser156Pro;Thr168=;Leu169Gln]
ENST00000573283.7:c.[425T>C;463T>C;465T>A] MANE Select	ENSP00000458435.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000574671.6:n.[825T>C;863T>C;865T>A]
ENST00000575659.6:c.[425T>C;463T>C;465T>A]	ENSP00000459119.2:p.[Leu142Pro;Ser155Arg]
ENST00000575994.6:c.[425T>C;463T>C;465T>A]	ENSP00000460464.2:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000576214.3:n.[726T>C;764T>C;766T>A]
ENST00000576544.6:c.[425T>C;463T>C;465T>A]	ENSP00000461672.1:p.[Leu142Pro;Ser155Leu]
ENST00000615544.5:c.[425T>C;463T>C;465T>A]	ENSP00000477968.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000644774.2:c.[398T>C;436T>C;438T>A]	ENSP00000493648.2:p.[Leu133Pro;Ser146Pro;Ser146=]
ENST00000679410.1:n.[549T>C;587T>C;589T>A]
ENST00000679480.1:c.[425T>C;463T>C;465T>A]	ENSP00000506201.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000679535.1:n.[726T>C;764T>C;766T>A]
ENST00000679778.1:c.[425T>C;463T>C;465T>A]	ENSP00000505235.1:p.[Leu142Pro;Ser155Arg]
ENST00000680227.1:c.[425T>C;463T>C;465T>A]	ENSP00000506253.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000680727.1:c.[425T>C;463T>C;465T>A]	ENSP00000505193.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000681052.1:c.[425T>C;463T>C;465T>A]	ENSP00000505060.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000681092.1:c.[229T>C;267T>C;*269T>A]	ENSP00000506720.1:n.[229T>C;267T>C;*269T>A]
ENST00000681842.1:c.[425T>C;463T>C;465T>A]	ENSP00000506126.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000331925.6:c.[425T>C;463T>C;465T>A]	ENSP00000331514.2:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000570382.1:c.[353T>C;391T>C;393T>A]	ENSP00000466346.1:p.[Leu118Pro;Ser131Pro;Ser131=]
ENST00000571691.5:c.[398T>C;436T>C;438T>A]	ENSP00000461407.1:p.[Leu133Pro;Ser146Pro;Ser146=]
ENST00000571721.5:c.[425T>C;463T>C;465T>A]	ENSP00000460660.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000572105.6:c.[466T>C;504T>C;506T>A]	ENSP00000462823.1:p.[Ser156Pro;Thr168=;Leu169Gln]
ENST00000573283.5:c.[425T>C;463T>C;465T>A]	ENSP00000458435.1:p.[Leu142Pro;Ser155Pro]
ENST00000574671.5:n.[284T>C;322T>C;324T>A]
ENST00000575087.5:c.[425T>C;463T>C;465T>A]	ENSP00000459124.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000575659.5:c.[425T>C;463T>C;465T>A]	ENSP00000459119.1:p.[Leu142Pro;Ser155Arg]
ENST00000575842.5:c.[425T>C;463T>C;465T>A]	ENSP00000458162.1:p.[Leu142Pro;Ser155Pro]
ENST00000575994.5:c.[425T>C;463T>C;465T>A]	ENSP00000460464.1:p.[Leu142Pro;Ser155Pro;Ser155=]
ENST00000576209.5:n.[310T>C;348T>C;350T>A]
ENST00000576214.2:n.[623T>C;661T>C;663T>A]
ENST00000576544.5:c.[425T>C;463T>C;465T>A]	ENSP00000461672.1:p.[Leu142Pro;Ser155Leu]
ENST00000576917.5:n.[478T>C;516T>C;518T>A]
ENST00000615544.4:c.[425T>C;463T>C;465T>A]	ENSP00000477968.1:p.[Leu142Pro;Ser155Leu]
NM_001199954.1:c.[425T>C;463T>C;465T>A]	NP_001186883.1:p.[Leu142Pro;Ser155Pro;Ser155=]
NM_001614.3:c.[425T>C;463T>C;465T>A]	NP_001605.1:p.[Leu142Pro;Ser155Leu]
NR_037688.1:n.[564T>C;602T>C;604T>A]
NM_001199954.2:c.[425T>C;463T>C;465T>A]	NP_001186883.1:p.[Leu142Pro;Ser155Pro;Ser155=]
NM_001614.4:c.[425T>C;463T>C;465T>A]	NP_001605.1:p.[Leu142Pro;Ser155Pro;Ser155=]
NR_037688.2:n.[497T>C;535T>C;537T>A]
NM_001614.5:c.[425T>C;463T>C;465T>A] MANE Select	NP_001605.1:p.[Leu142Pro;Ser155Pro;Ser155=]
NR_037688.3:n.[497T>C;535T>C;537T>A]
NM_001199954.3:c.[425T>C;463T>C;465T>A]	NP_001186883.1:p.[Leu142Pro;Ser155Pro;Ser155=]