Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624323G>T , CM000682.2:g.44624323G>T	GRCh38
NC_000020.10:g.43252964G>T , CM000682.1:g.43252964G>T	GRCh37
NC_000020.9:g.42686378G>T	NCBI36
NG_007385.1:g.32413C>A , LRG_16:g.32413C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.576C>A
ENST00000536076.2:c.332C>A	ENSP00000512234.1:p.Ser111Tyr
ENST00000536532.6:c.485C>A	ENSP00000440946.1:p.Ser162Tyr
ENST00000537820.2:c.485C>A	ENSP00000441818.1:p.Ser162Tyr
ENST00000539235.6:c.219-1245C>A	ENSP00000446464.1:n.219-1245C>A
ENST00000695889.1:c.219-1393C>A	ENSP00000512240.1:n.219-1393C>A
ENST00000695890.1:n.2288C>A
ENST00000695891.1:c.219-1393C>A	ENSP00000512241.1:n.219-1393C>A
ENST00000695927.1:c.563C>A	ENSP00000512270.1:p.Ser188Tyr
ENST00000695949.1:c.482C>A	ENSP00000512281.1:p.Ser161Tyr
ENST00000695957.1:c.369C>A	ENSP00000512286.1:p.Val123=
ENST00000695991.1:c.217-1393C>A	ENSP00000512314.1:n.217-1393C>A
ENST00000695992.1:c.485C>A	ENSP00000512315.1:p.Ser162Tyr
ENST00000695993.1:c.485C>A	ENSP00000512316.1:p.Ser162Tyr
ENST00000695994.1:c.485C>A	ENSP00000512317.1:p.Ser162Tyr
ENST00000695995.1:c.217-1245C>A	ENSP00000512318.1:n.217-1245C>A
ENST00000695996.1:n.556C>A
ENST00000695997.1:n.440C>A
ENST00000696003.1:n.577C>A
ENST00000696004.1:n.577C>A
ENST00000696005.1:c.7C>A
ENST00000696006.1:c.485C>A	ENSP00000512325.1:p.Ser162Tyr
ENST00000696007.1:c.336C>A	ENSP00000512326.1:p.Val112=
ENST00000696008.1:n.1640C>A
ENST00000696009.1:n.1835C>A
ENST00000696017.1:c.482C>A	ENSP00000512333.1:p.Ser161Tyr
ENST00000696034.1:c.485C>A	ENSP00000512343.1:p.Ser162Tyr
ENST00000696035.1:n.595C>A
ENST00000696036.1:n.1175C>A
ENST00000696037.1:n.2162C>A
ENST00000696038.1:c.*231C>A	ENSP00000512344.1:n.*231C>A
ENST00000696039.1:n.773C>A
ENST00000696058.1:c.485C>A	ENSP00000512361.1:p.Ser162Tyr
ENST00000696059.1:c.*430C>A	ENSP00000512362.1:n.*430C>A
ENST00000696060.1:c.485C>A	ENSP00000512363.1:p.Ser162Tyr
ENST00000696061.1:c.482C>A	ENSP00000512364.1:p.Ser161Tyr
ENST00000696062.1:c.548C>A	ENSP00000512365.1:p.Ser183Tyr
ENST00000696063.1:c.560C>A	ENSP00000512366.1:p.Ser187Tyr
ENST00000696064.1:c.332C>A	ENSP00000512367.1:p.Ser111Tyr
ENST00000696065.1:c.66-1393C>A	ENSP00000512368.1:n.66-1393C>A
ENST00000696074.1:n.101C>A
ENST00000696075.1:c.*455C>A	ENSP00000512374.1:n.*455C>A
ENST00000696076.1:c.485C>A	ENSP00000512375.1:p.Ser162Tyr
ENST00000696077.1:c.482C>A	ENSP00000512376.1:p.Ser161Tyr
ENST00000696078.1:c.485C>A	ENSP00000512377.1:p.Ser162Tyr
ENST00000696079.1:c.485C>A	ENSP00000512378.1:p.Ser162Tyr
ENST00000696080.1:c.485C>A	ENSP00000512379.1:p.Ser162Tyr
ENST00000696081.1:n.604C>A
ENST00000696082.1:c.563C>A	ENSP00000512380.1:p.Ser188Tyr
ENST00000696083.1:n.1366C>A
ENST00000696084.1:n.586C>A
ENST00000696104.1:c.363-1393C>A	ENSP00000512399.1:n.363-1393C>A
ENST00000696105.1:c.*26C>A	ENSP00000512400.1:n.*26C>A
ENST00000372874.9:c.485C>A MANE Select	ENSP00000361965.4:p.Ser162Tyr
ENST00000372874.8:c.485C>A	ENSP00000361965.4:p.Ser162Tyr
ENST00000464097.5:n.159C>A
ENST00000492931.5:n.569C>A
ENST00000536532.5:c.485C>A	ENSP00000440946.1:p.Ser162Tyr
ENST00000537820.1:c.485C>A	ENSP00000441818.1:p.Ser162Tyr
ENST00000539235.5:c.219-1245C>A	ENSP00000446464.1:n.219-1245C>A
NM_000022.2:c.485C>A , LRG_16t1:c.485C>A	NP_000013.2:p.Ser162Tyr
XM_005260236.2:c.485C>A	XP_005260293.1:p.Ser162Tyr
XM_011528478.1:c.80C>A	XP_011526780.1:p.Ser27Tyr
XM_011528479.1:c.80C>A	XP_011526781.1:p.Ser27Tyr
XR_244129.1:n.539C>A
NM_000022.3:c.485C>A	NP_000013.2:p.Ser162Tyr
NM_001322050.1:c.80C>A	NP_001308979.1:p.Ser27Tyr
NM_001322051.1:c.485C>A	NP_001308980.1:p.Ser162Tyr
NR_136160.1:n.636C>A
NM_000022.4:c.485C>A MANE Select	NP_000013.2:p.Ser162Tyr
NM_001322050.2:c.80C>A	NP_001308979.1:p.Ser27Tyr
NM_001322051.2:c.485C>A	NP_001308980.1:p.Ser162Tyr
NR_136160.2:n.577C>A

Linked Data

Genomic Alleles

Transcript Alleles