Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278861G= , CM000676.2:g.77278861G=	GRCh38
NC_000014.8:g.77745204G= , CM000676.1:g.77745204G=	GRCh37
NC_000014.7:g.76814957G=	NCBI36
NG_008897.1:g.47022C= , LRG_844:g.47022C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.825C=
ENST00000556394.2:c.1441C=	ENSP00000451967.2:p.Gln481=
ENST00000682128.1:c.201C=	ENSP00000506976.1:n.201C=
ENST00000682247.1:c.1892-3C=	ENSP00000507213.1:n.1892-3C=
ENST00000682395.1:n.2364C=
ENST00000682459.1:n.1603C=
ENST00000682467.1:c.1892-353C=	ENSP00000508062.1:n.1892-353C=
ENST00000682615.1:n.254C=
ENST00000682795.1:c.2047C=	ENSP00000507574.1:p.Gln683=
ENST00000682895.1:n.1616C=
ENST00000682955.1:n.1474C=
ENST00000683095.1:c.306C=	ENSP00000508040.1:n.306C=
ENST00000683188.1:c.2161C=
ENST00000683380.1:n.1564C=
ENST00000683828.1:c.1609C=
ENST00000683907.1:c.165C=	ENSP00000507754.1:p.Pro55=
ENST00000684172.1:c.276C=	ENSP00000508391.1:n.276C=
ENST00000684259.1:n.3667C=
ENST00000684538.1:n.1279C=
ENST00000684549.1:n.1451C=
ENST00000261534.9:c.1900C= MANE Select	ENSP00000261534.4:p.Gln634=
ENST00000261534.8:c.1900C=	ENSP00000261534.4:p.Gln634=
ENST00000452340.7:n.2876C=
ENST00000554767.5:n.2686C=
ENST00000555134.1:n.825C=
ENST00000555710.1:c.261C=	ENSP00000451730.1:n.261C=
ENST00000556171.1:c.492C=
ENST00000556394.1:c.88-353C=
ENST00000556446.1:n.201C=
ENST00000602717.5:c.115C=	ENSP00000487704.1:p.Gln39=
NM_013382.5:c.1900C= , LRG_844t1:c.1900C=	NP_037514.2:p.Gln634=
XM_011536675.1:c.2089C=	XP_011534977.1:p.Gln697=
XM_011536676.1:c.1756C=	XP_011534978.1:p.Gln586=
XM_011536677.1:c.1630C=	XP_011534979.1:p.Gln544=
XM_011536679.1:c.1183C=	XP_011534981.1:p.Gln395=
XR_943416.1:n.2153C=
XM_011536675.2:c.2089C=	XP_011534977.1:p.Gln697=
XM_011536676.2:c.1756C=	XP_011534978.1:p.Gln586=
XM_011536677.3:c.1630C=	XP_011534979.1:p.Gln544=
XR_001750279.1:n.2186C=
XR_001750282.1:n.2839C=
XR_943416.3:n.2151C=
NM_013382.6:c.1900C=	NP_037514.2:p.Gln634=
NM_013382.7:c.1900C= MANE Select	NP_037514.2:p.Gln634=