Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278837G= , CM000676.2:g.77278837G=	GRCh38
NC_000014.8:g.77745180G= , CM000676.1:g.77745180G=	GRCh37
NC_000014.7:g.76814933G=	NCBI36
NG_008897.1:g.47046C= , LRG_844:g.47046C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.849C=
ENST00000556394.2:c.1465C=	ENSP00000451967.2:p.Gln489=
ENST00000682128.1:c.225C=	ENSP00000506976.1:n.225C=
ENST00000682247.1:c.1913C=	ENSP00000507213.1:p.Pro638=
ENST00000682395.1:n.2388C=
ENST00000682459.1:n.1627C=
ENST00000682467.1:c.1892-329C=	ENSP00000508062.1:n.1892-329C=
ENST00000682615.1:n.278C=
ENST00000682795.1:c.2071C=	ENSP00000507574.1:p.Gln691=
ENST00000682895.1:n.1640C=
ENST00000682955.1:n.1498C=
ENST00000683095.1:c.330C=	ENSP00000508040.1:n.330C=
ENST00000683188.1:c.2185C=
ENST00000683380.1:n.1588C=
ENST00000683828.1:c.1633C=
ENST00000683907.1:c.189C=	ENSP00000507754.1:p.Ala63=
ENST00000684172.1:c.300C=	ENSP00000508391.1:n.300C=
ENST00000684259.1:n.3691C=
ENST00000684538.1:n.1303C=
ENST00000684549.1:n.1475C=
ENST00000261534.9:c.1924C= MANE Select	ENSP00000261534.4:p.Gln642=
ENST00000261534.8:c.1924C=	ENSP00000261534.4:p.Gln642=
ENST00000452340.7:n.2900C=
ENST00000554767.5:n.2710C=
ENST00000555134.1:n.849C=
ENST00000555710.1:c.285C=	ENSP00000451730.1:n.285C=
ENST00000556171.1:c.516C=
ENST00000556394.1:c.88-329C=
ENST00000556446.1:n.225C=
ENST00000602717.5:c.139C=	ENSP00000487704.1:p.Gln47=
NM_013382.5:c.1924C= , LRG_844t1:c.1924C=	NP_037514.2:p.Gln642=
XM_011536675.1:c.2113C=	XP_011534977.1:p.Gln705=
XM_011536676.1:c.1780C=	XP_011534978.1:p.Gln594=
XM_011536677.1:c.1654C=	XP_011534979.1:p.Gln552=
XM_011536679.1:c.1207C=	XP_011534981.1:p.Gln403=
XR_943416.1:n.2177C=
XM_011536675.2:c.2113C=	XP_011534977.1:p.Gln705=
XM_011536676.2:c.1780C=	XP_011534978.1:p.Gln594=
XM_011536677.3:c.1654C=	XP_011534979.1:p.Gln552=
XR_001750279.1:n.2210C=
XR_001750282.1:n.2863C=
XR_943416.3:n.2175C=
NM_013382.6:c.1924C=	NP_037514.2:p.Gln642=
NM_013382.7:c.1924C= MANE Select	NP_037514.2:p.Gln642=