Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278857A= , CM000676.2:g.77278857A=	GRCh38
NC_000014.8:g.77745200A= , CM000676.1:g.77745200A=	GRCh37
NC_000014.7:g.76814953A=	NCBI36
NG_008897.1:g.47026T= , LRG_844:g.47026T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.829T=
ENST00000556394.2:c.1445T=	ENSP00000451967.2:p.Val482=
ENST00000682128.1:c.205T=	ENSP00000506976.1:n.205T=
ENST00000682247.1:c.1893T=	ENSP00000507213.1:p.Gly631=
ENST00000682395.1:n.2368T=
ENST00000682459.1:n.1607T=
ENST00000682467.1:c.1892-349T=	ENSP00000508062.1:n.1892-349T=
ENST00000682615.1:n.258T=
ENST00000682795.1:c.2051T=	ENSP00000507574.1:p.Val684=
ENST00000682895.1:n.1620T=
ENST00000682955.1:n.1478T=
ENST00000683095.1:c.310T=	ENSP00000508040.1:n.310T=
ENST00000683188.1:c.2165T=
ENST00000683380.1:n.1568T=
ENST00000683828.1:c.1613T=
ENST00000683907.1:c.169T=	ENSP00000507754.1:p.Ser57=
ENST00000684172.1:c.280T=	ENSP00000508391.1:n.280T=
ENST00000684259.1:n.3671T=
ENST00000684538.1:n.1283T=
ENST00000684549.1:n.1455T=
ENST00000261534.9:c.1904T= MANE Select	ENSP00000261534.4:p.Val635=
ENST00000261534.8:c.1904T=	ENSP00000261534.4:p.Val635=
ENST00000452340.7:n.2880T=
ENST00000554767.5:n.2690T=
ENST00000555134.1:n.829T=
ENST00000555710.1:c.265T=	ENSP00000451730.1:n.265T=
ENST00000556171.1:c.496T=
ENST00000556394.1:c.88-349T=
ENST00000556446.1:n.205T=
ENST00000602717.5:c.119T=	ENSP00000487704.1:p.Val40=
NM_013382.5:c.1904T= , LRG_844t1:c.1904T=	NP_037514.2:p.Val635=
XM_011536675.1:c.2093T=	XP_011534977.1:p.Val698=
XM_011536676.1:c.1760T=	XP_011534978.1:p.Val587=
XM_011536677.1:c.1634T=	XP_011534979.1:p.Val545=
XM_011536679.1:c.1187T=	XP_011534981.1:p.Val396=
XR_943416.1:n.2157T=
XM_011536675.2:c.2093T=	XP_011534977.1:p.Val698=
XM_011536676.2:c.1760T=	XP_011534978.1:p.Val587=
XM_011536677.3:c.1634T=	XP_011534979.1:p.Val545=
XR_001750279.1:n.2190T=
XR_001750282.1:n.2843T=
XR_943416.3:n.2155T=
NM_013382.6:c.1904T=	NP_037514.2:p.Val635=
NM_013382.7:c.1904T= MANE Select	NP_037514.2:p.Val635=