Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278843C= , CM000676.2:g.77278843C=	GRCh38
NC_000014.8:g.77745186C= , CM000676.1:g.77745186C=	GRCh37
NC_000014.7:g.76814939C=	NCBI36
NG_008897.1:g.47040G= , LRG_844:g.47040G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.843G=
ENST00000556394.2:c.1459G=	ENSP00000451967.2:p.Gly487=
ENST00000682128.1:c.219G=	ENSP00000506976.1:n.219G=
ENST00000682247.1:c.1907G=	ENSP00000507213.1:p.Arg636=
ENST00000682395.1:n.2382G=
ENST00000682459.1:n.1621G=
ENST00000682467.1:c.1892-335G=	ENSP00000508062.1:n.1892-335G=
ENST00000682615.1:n.272G=
ENST00000682795.1:c.2065G=	ENSP00000507574.1:p.Gly689=
ENST00000682895.1:n.1634G=
ENST00000682955.1:n.1492G=
ENST00000683095.1:c.324G=	ENSP00000508040.1:n.324G=
ENST00000683188.1:c.2179G=
ENST00000683380.1:n.1582G=
ENST00000683828.1:c.1627G=
ENST00000683907.1:c.183G=	ENSP00000507754.1:p.Glu61=
ENST00000684172.1:c.294G=	ENSP00000508391.1:n.294G=
ENST00000684259.1:n.3685G=
ENST00000684538.1:n.1297G=
ENST00000684549.1:n.1469G=
ENST00000261534.9:c.1918G= MANE Select	ENSP00000261534.4:p.Gly640=
ENST00000261534.8:c.1918G=	ENSP00000261534.4:p.Gly640=
ENST00000452340.7:n.2894G=
ENST00000554767.5:n.2704G=
ENST00000555134.1:n.843G=
ENST00000555710.1:c.279G=	ENSP00000451730.1:n.279G=
ENST00000556171.1:c.510G=
ENST00000556394.1:c.88-335G=
ENST00000556446.1:n.219G=
ENST00000602717.5:c.133G=	ENSP00000487704.1:p.Gly45=
NM_013382.5:c.1918G= , LRG_844t1:c.1918G=	NP_037514.2:p.Gly640=
XM_011536675.1:c.2107G=	XP_011534977.1:p.Gly703=
XM_011536676.1:c.1774G=	XP_011534978.1:p.Gly592=
XM_011536677.1:c.1648G=	XP_011534979.1:p.Gly550=
XM_011536679.1:c.1201G=	XP_011534981.1:p.Gly401=
XR_943416.1:n.2171G=
XM_011536675.2:c.2107G=	XP_011534977.1:p.Gly703=
XM_011536676.2:c.1774G=	XP_011534978.1:p.Gly592=
XM_011536677.3:c.1648G=	XP_011534979.1:p.Gly550=
XR_001750279.1:n.2204G=
XR_001750282.1:n.2857G=
XR_943416.3:n.2169G=
NM_013382.6:c.1918G=	NP_037514.2:p.Gly640=
NM_013382.7:c.1918G= MANE Select	NP_037514.2:p.Gly640=