Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278826G= , CM000676.2:g.77278826G=	GRCh38
NC_000014.8:g.77745169G= , CM000676.1:g.77745169G=	GRCh37
NC_000014.7:g.76814922G=	NCBI36
NG_008897.1:g.47057C= , LRG_844:g.47057C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.860C=
ENST00000556394.2:c.1476C=	ENSP00000451967.2:p.Leu492=
ENST00000682128.1:c.236C=	ENSP00000506976.1:n.236C=
ENST00000682247.1:c.1924C=	ENSP00000507213.1:p.Arg642=
ENST00000682395.1:n.2399C=
ENST00000682459.1:n.1638C=
ENST00000682467.1:c.1892-318C=	ENSP00000508062.1:n.1892-318C=
ENST00000682615.1:n.289C=
ENST00000682795.1:c.2082C=	ENSP00000507574.1:p.Leu694=
ENST00000682895.1:n.1651C=
ENST00000682955.1:n.1509C=
ENST00000683095.1:c.341C=	ENSP00000508040.1:n.341C=
ENST00000683188.1:c.2196C=
ENST00000683380.1:n.1599C=
ENST00000683828.1:c.1644C=
ENST00000683907.1:c.200C=	ENSP00000507754.1:p.Ser67=
ENST00000684172.1:c.311C=	ENSP00000508391.1:n.311C=
ENST00000684259.1:n.3702C=
ENST00000684538.1:n.1314C=
ENST00000684549.1:n.1486C=
ENST00000261534.9:c.1935C= MANE Select	ENSP00000261534.4:p.Leu645=
ENST00000261534.8:c.1935C=	ENSP00000261534.4:p.Leu645=
ENST00000452340.7:n.2911C=
ENST00000554767.5:n.2721C=
ENST00000555134.1:n.860C=
ENST00000555710.1:c.296C=	ENSP00000451730.1:n.296C=
ENST00000556171.1:c.527C=
ENST00000556394.1:c.88-318C=
ENST00000556446.1:n.236C=
ENST00000602717.5:c.150C=	ENSP00000487704.1:p.Leu50=
NM_013382.5:c.1935C= , LRG_844t1:c.1935C=	NP_037514.2:p.Leu645=
XM_011536675.1:c.2124C=	XP_011534977.1:p.Leu708=
XM_011536676.1:c.1791C=	XP_011534978.1:p.Leu597=
XM_011536677.1:c.1665C=	XP_011534979.1:p.Leu555=
XM_011536679.1:c.1218C=	XP_011534981.1:p.Leu406=
XR_943416.1:n.2188C=
XM_011536675.2:c.2124C=	XP_011534977.1:p.Leu708=
XM_011536676.2:c.1791C=	XP_011534978.1:p.Leu597=
XM_011536677.3:c.1665C=	XP_011534979.1:p.Leu555=
XR_001750279.1:n.2221C=
XR_001750282.1:n.2874C=
XR_943416.3:n.2186C=
NM_013382.6:c.1935C=	NP_037514.2:p.Leu645=
NM_013382.7:c.1935C= MANE Select	NP_037514.2:p.Leu645=