Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278841G= , CM000676.2:g.77278841G=	GRCh38
NC_000014.8:g.77745184G= , CM000676.1:g.77745184G=	GRCh37
NC_000014.7:g.76814937G=	NCBI36
NG_008897.1:g.47042C= , LRG_844:g.47042C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.845C=
ENST00000556394.2:c.1461C=	ENSP00000451967.2:p.Gly487=
ENST00000682128.1:c.221C=	ENSP00000506976.1:n.221C=
ENST00000682247.1:c.1909C=	ENSP00000507213.1:p.Arg637=
ENST00000682395.1:n.2384C=
ENST00000682459.1:n.1623C=
ENST00000682467.1:c.1892-333C=	ENSP00000508062.1:n.1892-333C=
ENST00000682615.1:n.274C=
ENST00000682795.1:c.2067C=	ENSP00000507574.1:p.Gly689=
ENST00000682895.1:n.1636C=
ENST00000682955.1:n.1494C=
ENST00000683095.1:c.326C=	ENSP00000508040.1:n.326C=
ENST00000683188.1:c.2181C=
ENST00000683380.1:n.1584C=
ENST00000683828.1:c.1629C=
ENST00000683907.1:c.185C=	ENSP00000507754.1:p.Ala62=
ENST00000684172.1:c.296C=	ENSP00000508391.1:n.296C=
ENST00000684259.1:n.3687C=
ENST00000684538.1:n.1299C=
ENST00000684549.1:n.1471C=
ENST00000261534.9:c.1920C= MANE Select	ENSP00000261534.4:p.Gly640=
ENST00000261534.8:c.1920C=	ENSP00000261534.4:p.Gly640=
ENST00000452340.7:n.2896C=
ENST00000554767.5:n.2706C=
ENST00000555134.1:n.845C=
ENST00000555710.1:c.281C=	ENSP00000451730.1:n.281C=
ENST00000556171.1:c.512C=
ENST00000556394.1:c.88-333C=
ENST00000556446.1:n.221C=
ENST00000602717.5:c.135C=	ENSP00000487704.1:p.Gly45=
NM_013382.5:c.1920C= , LRG_844t1:c.1920C=	NP_037514.2:p.Gly640=
XM_011536675.1:c.2109C=	XP_011534977.1:p.Gly703=
XM_011536676.1:c.1776C=	XP_011534978.1:p.Gly592=
XM_011536677.1:c.1650C=	XP_011534979.1:p.Gly550=
XM_011536679.1:c.1203C=	XP_011534981.1:p.Gly401=
XR_943416.1:n.2173C=
XM_011536675.2:c.2109C=	XP_011534977.1:p.Gly703=
XM_011536676.2:c.1776C=	XP_011534978.1:p.Gly592=
XM_011536677.3:c.1650C=	XP_011534979.1:p.Gly550=
XR_001750279.1:n.2206C=
XR_001750282.1:n.2859C=
XR_943416.3:n.2171C=
NM_013382.6:c.1920C=	NP_037514.2:p.Gly640=
NM_013382.7:c.1920C= MANE Select	NP_037514.2:p.Gly640=