Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733133T>G , CM000666.2:g.54733133T>G	GRCh38
NC_000004.11:g.55599299T>G , CM000666.1:g.55599299T>G	GRCh37
NC_000004.10:g.55294056T>G	NCBI36
NG_007456.1:g.80139T>G , LRG_307:g.80139T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000222.3:c.2425T>G MANE Select	NP_000213.1:p.Cys809Gly
ENST00000288135.6:c.2425T>G MANE Select	ENSP00000288135.6:p.Cys809Gly
NM_000222.2:c.2425T>G , LRG_307t1:c.2425T>G	NP_000213.1:p.Cys809Gly
NM_001093772.1:c.2413T>G	NP_001087241.1:p.Cys805Gly
NM_001093772.2:c.2413T>G	NP_001087241.1:p.Cys805Gly
NM_001385284.1:c.2428T>G	NP_001372213.1:p.Cys810Gly
NM_001385285.1:c.2422T>G	NP_001372214.1:p.Cys808Gly
NM_001385286.1:c.2410T>G	NP_001372215.1:p.Cys804Gly
NM_001385288.1:c.2416T>G	NP_001372217.1:p.Cys806Gly
NM_001385290.1:c.2425T>G	NP_001372219.1:p.Cys809Gly
NM_001385292.1:c.2413T>G	NP_001372221.1:p.Cys805Gly
ENST00000288135.5:c.2425T>G	ENSP00000288135.5:p.Cys809Gly
ENST00000412167.6:c.2413T>G	ENSP00000390987.2:p.Cys805Gly
ENST00000412167.7:c.2413T>G	ENSP00000390987.3:p.Cys805Gly
ENST00000512959.1:n.478T>G
ENST00000685269.1:n.2503T>G
ENST00000686011.1:c.2410T>G	ENSP00000509704.1:p.Cys804Gly
ENST00000687109.1:c.2428T>G	ENSP00000509371.1:p.Cys810Gly
ENST00000687208.1:n.2837T>G
ENST00000687246.1:c.2349+1135T>G	ENSP00000509114.1:n.2349+1135T>G
ENST00000687265.1:n.2583T>G
ENST00000687295.1:c.2413T>G	ENSP00000509450.1:p.Cys805Gly
ENST00000688060.1:n.222T>G
ENST00000688704.1:n.1437T>G
ENST00000689832.1:c.2425T>G	ENSP00000509084.1:p.Cys809Gly
ENST00000689994.1:c.1915T>G	ENSP00000509156.1:p.Cys639Gly
ENST00000690543.1:c.2416T>G	ENSP00000508831.1:p.Cys806Gly
ENST00000690917.1:n.2643T>G
ENST00000691361.1:n.1335T>G
ENST00000692783.1:c.2422T>G	ENSP00000508733.1:p.Cys808Gly
ENST00000692991.1:n.2522T>G
XM_005265740.1:c.2428T>G	XP_005265797.1:p.Cys810Gly
XM_005265741.1:c.2425T>G	XP_005265798.1:p.Cys809Gly
XM_005265742.1:c.2416T>G	XP_005265799.1:p.Cys806Gly
XM_005265742.3:c.2416T>G	XP_005265799.1:p.Cys806Gly
XM_017008178.1:c.2422T>G	XP_016863667.1:p.Cys808Gly
XM_017008179.1:c.2413T>G	XP_016863668.1:p.Cys805Gly
XM_017008180.1:c.2410T>G	XP_016863669.1:p.Cys804Gly