Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[81511447A>C;81511470C>T;81511490T>A] , CM000679.2:g.[81511447A>C;81511470C>T;81511490T>A]	GRCh38
NC_000017.10:g.[79478473A>C;79478496C>T;79478516T>A] , CM000679.1:g.[79478473A>C;79478496C>T;79478516T>A]	GRCh37
NC_000017.9:g.[77093068A>C;77093091C>T;77093111T>A]	NCBI36
NG_011433.1:g.[6312A>T;6332G>A;6355T>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.[500A>T;520G>A;543T>G]	ENSP00000466346.2:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000571691.6:c.[428A>T;448G>A;471T>G]	ENSP00000461407.2:p.[Glu143Val;Ala150Thr;Ala157=]
ENST00000571721.6:c.[500A>T;520G>A;543T>G]	ENSP00000460660.2:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000572105.7:c.[541A>T;561G>A;584T>G]	ENSP00000462823.1:p.[Arg181Trp;Thr187=;Leu195Arg]
ENST00000573283.7:c.[500A>T;520G>A;543T>G] MANE Select	ENSP00000458435.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000574671.6:n.[900A>T;920G>A;943T>G]
ENST00000575659.6:c.[500A>T;520G>A;543T>G]	ENSP00000459119.2:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000575994.6:c.[500A>T;520G>A;543T>G]	ENSP00000460464.2:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000576214.3:n.[801A>T;821G>A;844T>G]
ENST00000576544.6:c.[500A>T;520G>A;543T>G]	ENSP00000461672.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000615544.5:c.[500A>T;520G>A;543T>G]	ENSP00000477968.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000644774.2:c.[473A>T;493G>A;516T>G]	ENSP00000493648.2:p.[Glu158Val;Ala165Thr;Ala172=]
ENST00000679410.1:n.[624A>T;644G>A;667T>G]
ENST00000679480.1:c.[500A>T;520G>A;543T>G]	ENSP00000506201.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000679535.1:n.[801A>T;821G>A;844T>G]
ENST00000679778.1:c.[500A>T;520G>A;543T>G]	ENSP00000505235.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000680227.1:c.[500A>T;520G>A;543T>G]	ENSP00000506253.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000680727.1:c.[500A>T;520G>A;543T>G]	ENSP00000505193.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000681052.1:c.[500A>T;520G>A;543T>G]	ENSP00000505060.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000681092.1:c.[304A>T;324G>A;*347T>G]	ENSP00000506720.1:n.[304A>T;324G>A;*347T>G]
ENST00000681842.1:c.[500A>T;520G>A;543T>G]	ENSP00000506126.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000331925.6:c.[500A>T;520G>A;543T>G]	ENSP00000331514.2:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000571691.5:c.[473A>T;493G>A;516T>G]	ENSP00000461407.1:p.[Glu158Val;Ala165Thr;Ala172=]
ENST00000572105.6:c.[541A>T;561G>A;584T>G]	ENSP00000462823.1:p.[Arg181Trp;Thr187=;Leu195Arg]
ENST00000573283.5:c.[500A>T;520G>A;543T>G]	ENSP00000458435.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000574671.5:n.[359A>T;379G>A;402T>G]
ENST00000575087.5:c.[500A>T;520G>A;543T>G]	ENSP00000459124.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000575659.5:c.[500A>T;520G>A;543T>G]	ENSP00000459119.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000575842.5:c.[500A>T;520G>A;543T>G]	ENSP00000458162.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000575994.5:c.[500A>T;520G>A;543T>G]	ENSP00000460464.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000576209.5:n.[385A>T;405G>A;428T>G]
ENST00000576214.2:n.[698A>T;718G>A;741T>G]
ENST00000576544.5:c.[500A>T;520G>A;543T>G]	ENSP00000461672.1:p.[Glu167Val;Ala174Thr;Ala181=]
ENST00000576917.5:n.[553A>T;573G>A;596T>G]
ENST00000615544.4:c.[500A>T;520G>A;543T>G]	ENSP00000477968.1:p.[Glu167Val;Ala174Thr;Ala181=]
NM_001199954.1:c.[500A>T;520G>A;543T>G]	NP_001186883.1:p.[Glu167Val;Ala174Thr;Ala181=]
NM_001614.3:c.[500A>T;520G>A;543T>G]	NP_001605.1:p.[Glu167Val;Ala174Thr;Ala181=]
NR_037688.1:n.[639A>T;659G>A;682T>G]
NM_001199954.2:c.[500A>T;520G>A;543T>G]	NP_001186883.1:p.[Glu167Val;Ala174Thr;Ala181=]
NM_001614.4:c.[500A>T;520G>A;543T>G]	NP_001605.1:p.[Glu167Val;Ala174Thr;Ala181=]
NR_037688.2:n.[572A>T;592G>A;615T>G]
NM_001614.5:c.[500A>T;520G>A;543T>G] MANE Select	NP_001605.1:p.[Glu167Val;Ala174Thr;Ala181=]
NR_037688.3:n.[572A>T;592G>A;615T>G]
NM_001199954.3:c.[500A>T;520G>A;543T>G]	NP_001186883.1:p.[Glu167Val;Ala174Thr;Ala181=]