Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364014G>A , CM000670.2:g.74364014G>A	GRCh38
NC_000008.10:g.75276249G>A , CM000670.1:g.75276249G>A	GRCh37
NC_000008.9:g.75438804G>A	NCBI36
NG_008787.2:g.47885G>A
NG_008787.3:g.47885G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.724G>A MANE Select	ENSP00000220822.7:p.Glu242Lys
ENST00000434412.3:c.592G>A	ENSP00000417006.3:p.Glu198Lys
ENST00000520797.6:n.835G>A
ENST00000521096.6:n.580G>A
ENST00000522568.2:c.*396G>A	ENSP00000430136.1:n.*396G>A
ENST00000523640.2:c.165+12693G>A	ENSP00000502017.1:n.165+12693G>A
ENST00000524195.2:c.280+961G>A	ENSP00000502308.1:n.280+961G>A
ENST00000674612.1:c.397G>A	ENSP00000501864.1:p.Glu133Lys
ENST00000674710.1:c.694+961G>A	ENSP00000502762.1:n.694+961G>A
ENST00000674754.1:c.*2287G>A	ENSP00000502063.1:n.*2287G>A
ENST00000674756.1:c.*366+961G>A	ENSP00000501860.1:n.*366+961G>A
ENST00000674806.1:c.397G>A	ENSP00000502637.1:p.Glu133Lys
ENST00000674865.1:c.520G>A	ENSP00000502437.1:p.Glu174Lys
ENST00000674926.1:c.*1356G>A	ENSP00000501799.1:n.*1356G>A
ENST00000674934.1:c.*412G>A	ENSP00000502187.1:n.*412G>A
ENST00000674944.1:c.*1327G>A	ENSP00000501858.1:n.*1327G>A
ENST00000674946.1:c.694+961G>A	ENSP00000501569.1:n.694+961G>A
ENST00000674973.1:c.418G>A	ENSP00000502447.1:p.Glu140Lys
ENST00000675007.1:c.*462G>A	ENSP00000502119.1:n.*462G>A
ENST00000675060.1:c.*389G>A	ENSP00000501616.1:n.*389G>A
ENST00000675165.1:c.721G>A	ENSP00000502612.1:p.Glu241Lys
ENST00000675220.1:c.397G>A	ENSP00000502588.1:p.Glu133Lys
ENST00000675265.1:c.*474G>A	ENSP00000501848.1:n.*474G>A
ENST00000675336.1:c.*210G>A	ENSP00000502120.1:n.*210G>A
ENST00000675376.1:c.397G>A	ENSP00000502838.1:p.Glu133Lys
ENST00000675463.1:c.802G>A	ENSP00000502327.1:p.Glu268Lys
ENST00000675472.1:c.*210G>A	ENSP00000501946.1:n.*210G>A
ENST00000675474.1:n.309G>A
ENST00000675560.1:c.*366+961G>A	ENSP00000502118.1:n.*366+961G>A
ENST00000675625.1:c.*396G>A	ENSP00000501626.1:n.*396G>A
ENST00000675633.1:c.*131G>A	ENSP00000501785.1:n.*131G>A
ENST00000675661.1:c.*484G>A	ENSP00000501958.1:n.*484G>A
ENST00000675706.1:n.2682G>A
ENST00000675821.1:c.397G>A	ENSP00000502198.1:p.Glu133Lys
ENST00000675832.1:c.*396G>A	ENSP00000502041.1:n.*396G>A
ENST00000675928.1:c.550G>A	ENSP00000501568.1:p.Glu184Lys
ENST00000675944.1:c.520G>A	ENSP00000502673.1:p.Glu174Lys
ENST00000675999.1:c.694+961G>A	ENSP00000502572.1:n.694+961G>A
ENST00000676049.1:c.*626G>A	ENSP00000501912.1:n.*626G>A
ENST00000676112.1:c.790G>A	ENSP00000502295.1:p.Glu264Lys
ENST00000676143.1:c.397G>A	ENSP00000502828.1:p.Glu133Lys
ENST00000676207.1:c.694+961G>A	ENSP00000502638.1:n.694+961G>A
ENST00000676377.1:c.397G>A	ENSP00000502756.1:p.Glu133Lys
ENST00000676415.1:c.*30G>A	ENSP00000502665.1:n.*30G>A
ENST00000676443.1:c.676G>A	ENSP00000501769.1:p.Glu226Lys
ENST00000220822.11:c.724G>A	ENSP00000220822.7:p.Glu242Lys
ENST00000434412.2:c.520G>A	ENSP00000417006.2:p.Glu174Lys
ENST00000520797.5:n.489G>A
ENST00000521096.5:n.530G>A
ENST00000522568.1:c.*396G>A	ENSP00000430136.1:n.*396G>A
ENST00000524195.1:n.103+961G>A
ENST00000524366.5:n.568G>A
NM_001040875.2:c.520G>A	NP_001035808.1:p.Glu174Lys
NM_018972.2:c.724G>A	NP_061845.2:p.Glu242Lys
NR_046346.1:n.658G>A
XM_011517551.1:c.1018G>A	XP_011515853.1:p.Glu340Lys
XM_011517552.1:c.397G>A	XP_011515854.1:p.Glu133Lys
NM_001040875.3:c.520G>A	NP_001035808.1:p.Glu174Lys
NM_001362929.1:c.397G>A	NP_001349858.1:p.Glu133Lys
NM_001362930.1:c.550G>A	NP_001349859.1:p.Glu184Lys
NM_001362931.1:c.694+961G>A	NP_001349860.1:n.694+961G>A
NM_001362932.1:c.397G>A	NP_001349861.1:p.Glu133Lys
NM_018972.3:c.724G>A	NP_061845.2:p.Glu242Lys
NM_001362931.2:c.694+961G>A	NP_001349860.1:n.694+961G>A
NM_018972.4:c.724G>A MANE Select	NP_061845.2:p.Glu242Lys
NM_001040875.4:c.520G>A	NP_001035808.1:p.Glu174Lys
NM_001362929.2:c.397G>A	NP_001349858.1:p.Glu133Lys
NM_001362930.2:c.550G>A	NP_001349859.1:p.Glu184Lys
NM_001362932.2:c.397G>A	NP_001349861.1:p.Glu133Lys

Linked Data

Genomic Alleles

Transcript Alleles