Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278863G= , CM000676.2:g.77278863G=	GRCh38
NC_000014.8:g.77745206G= , CM000676.1:g.77745206G=	GRCh37
NC_000014.7:g.76814959G=	NCBI36
NG_008897.1:g.47020C= , LRG_844:g.47020C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.823C=
ENST00000556394.2:c.1439C=	ENSP00000451967.2:p.Ser480=
ENST00000682128.1:c.199C=	ENSP00000506976.1:n.199C=
ENST00000682247.1:c.1892-5C=	ENSP00000507213.1:n.1892-5C=
ENST00000682395.1:n.2362C=
ENST00000682459.1:n.1601C=
ENST00000682467.1:c.1892-355C=	ENSP00000508062.1:n.1892-355C=
ENST00000682615.1:n.252C=
ENST00000682795.1:c.2045C=	ENSP00000507574.1:p.Ser682=
ENST00000682895.1:n.1614C=
ENST00000682955.1:n.1472C=
ENST00000683095.1:c.304C=	ENSP00000508040.1:n.304C=
ENST00000683188.1:c.2159C=
ENST00000683380.1:n.1562C=
ENST00000683828.1:c.1607C=
ENST00000683907.1:c.163C=	ENSP00000507754.1:p.Pro55=
ENST00000684172.1:c.274C=	ENSP00000508391.1:n.274C=
ENST00000684259.1:n.3665C=
ENST00000684538.1:n.1277C=
ENST00000684549.1:n.1449C=
ENST00000261534.9:c.1898C= MANE Select	ENSP00000261534.4:p.Ser633=
ENST00000261534.8:c.1898C=	ENSP00000261534.4:p.Ser633=
ENST00000452340.7:n.2874C=
ENST00000554767.5:n.2684C=
ENST00000555134.1:n.823C=
ENST00000555710.1:c.259C=	ENSP00000451730.1:n.259C=
ENST00000556171.1:c.490C=
ENST00000556394.1:c.88-355C=
ENST00000556446.1:n.199C=
ENST00000602717.5:c.113C=	ENSP00000487704.1:p.Ser38=
NM_013382.5:c.1898C= , LRG_844t1:c.1898C=	NP_037514.2:p.Ser633=
XM_011536675.1:c.2087C=	XP_011534977.1:p.Ser696=
XM_011536676.1:c.1754C=	XP_011534978.1:p.Ser585=
XM_011536677.1:c.1628C=	XP_011534979.1:p.Ser543=
XM_011536679.1:c.1181C=	XP_011534981.1:p.Ser394=
XR_943416.1:n.2151C=
XM_011536675.2:c.2087C=	XP_011534977.1:p.Ser696=
XM_011536676.2:c.1754C=	XP_011534978.1:p.Ser585=
XM_011536677.3:c.1628C=	XP_011534979.1:p.Ser543=
XR_001750279.1:n.2184C=
XR_001750282.1:n.2837C=
XR_943416.3:n.2149C=
NM_013382.6:c.1898C=	NP_037514.2:p.Ser633=
NM_013382.7:c.1898C= MANE Select	NP_037514.2:p.Ser633=