Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278855G= , CM000676.2:g.77278855G=	GRCh38
NC_000014.8:g.77745198G= , CM000676.1:g.77745198G=	GRCh37
NC_000014.7:g.76814951G=	NCBI36
NG_008897.1:g.47028C= , LRG_844:g.47028C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.831C=
ENST00000556394.2:c.1447C=	ENSP00000451967.2:p.Leu483=
ENST00000682128.1:c.207C=	ENSP00000506976.1:n.207C=
ENST00000682247.1:c.1895C=	ENSP00000507213.1:p.Pro632=
ENST00000682395.1:n.2370C=
ENST00000682459.1:n.1609C=
ENST00000682467.1:c.1892-347C=	ENSP00000508062.1:n.1892-347C=
ENST00000682615.1:n.260C=
ENST00000682795.1:c.2053C=	ENSP00000507574.1:p.Leu685=
ENST00000682895.1:n.1622C=
ENST00000682955.1:n.1480C=
ENST00000683095.1:c.312C=	ENSP00000508040.1:n.312C=
ENST00000683188.1:c.2167C=
ENST00000683380.1:n.1570C=
ENST00000683828.1:c.1615C=
ENST00000683907.1:c.171C=	ENSP00000507754.1:p.Ser57=
ENST00000684172.1:c.282C=	ENSP00000508391.1:n.282C=
ENST00000684259.1:n.3673C=
ENST00000684538.1:n.1285C=
ENST00000684549.1:n.1457C=
ENST00000261534.9:c.1906C= MANE Select	ENSP00000261534.4:p.Leu636=
ENST00000261534.8:c.1906C=	ENSP00000261534.4:p.Leu636=
ENST00000452340.7:n.2882C=
ENST00000554767.5:n.2692C=
ENST00000555134.1:n.831C=
ENST00000555710.1:c.267C=	ENSP00000451730.1:n.267C=
ENST00000556171.1:c.498C=
ENST00000556394.1:c.88-347C=
ENST00000556446.1:n.207C=
ENST00000602717.5:c.121C=	ENSP00000487704.1:p.Leu41=
NM_013382.5:c.1906C= , LRG_844t1:c.1906C=	NP_037514.2:p.Leu636=
XM_011536675.1:c.2095C=	XP_011534977.1:p.Leu699=
XM_011536676.1:c.1762C=	XP_011534978.1:p.Leu588=
XM_011536677.1:c.1636C=	XP_011534979.1:p.Leu546=
XM_011536679.1:c.1189C=	XP_011534981.1:p.Leu397=
XR_943416.1:n.2159C=
XM_011536675.2:c.2095C=	XP_011534977.1:p.Leu699=
XM_011536676.2:c.1762C=	XP_011534978.1:p.Leu588=
XM_011536677.3:c.1636C=	XP_011534979.1:p.Leu546=
XR_001750279.1:n.2192C=
XR_001750282.1:n.2845C=
XR_943416.3:n.2157C=
NM_013382.6:c.1906C=	NP_037514.2:p.Leu636=
NM_013382.7:c.1906C= MANE Select	NP_037514.2:p.Leu636=