Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278829C= , CM000676.2:g.77278829C=	GRCh38
NC_000014.8:g.77745172C= , CM000676.1:g.77745172C=	GRCh37
NC_000014.7:g.76814925C=	NCBI36
NG_008897.1:g.47054G= , LRG_844:g.47054G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.857G=
ENST00000556394.2:c.1473G=	ENSP00000451967.2:p.Leu491=
ENST00000682128.1:c.233G=	ENSP00000506976.1:n.233G=
ENST00000682247.1:c.1921G=	ENSP00000507213.1:p.Ala641=
ENST00000682395.1:n.2396G=
ENST00000682459.1:n.1635G=
ENST00000682467.1:c.1892-321G=	ENSP00000508062.1:n.1892-321G=
ENST00000682615.1:n.286G=
ENST00000682795.1:c.2079G=	ENSP00000507574.1:p.Leu693=
ENST00000682895.1:n.1648G=
ENST00000682955.1:n.1506G=
ENST00000683095.1:c.338G=	ENSP00000508040.1:n.338G=
ENST00000683188.1:c.2193G=
ENST00000683380.1:n.1596G=
ENST00000683828.1:c.1641G=
ENST00000683907.1:c.197G=	ENSP00000507754.1:p.Cys66=
ENST00000684172.1:c.308G=	ENSP00000508391.1:n.308G=
ENST00000684259.1:n.3699G=
ENST00000684538.1:n.1311G=
ENST00000684549.1:n.1483G=
ENST00000261534.9:c.1932G= MANE Select	ENSP00000261534.4:p.Leu644=
ENST00000261534.8:c.1932G=	ENSP00000261534.4:p.Leu644=
ENST00000452340.7:n.2908G=
ENST00000554767.5:n.2718G=
ENST00000555134.1:n.857G=
ENST00000555710.1:c.293G=	ENSP00000451730.1:n.293G=
ENST00000556171.1:c.524G=
ENST00000556394.1:c.88-321G=
ENST00000556446.1:n.233G=
ENST00000602717.5:c.147G=	ENSP00000487704.1:p.Leu49=
NM_013382.5:c.1932G= , LRG_844t1:c.1932G=	NP_037514.2:p.Leu644=
XM_011536675.1:c.2121G=	XP_011534977.1:p.Leu707=
XM_011536676.1:c.1788G=	XP_011534978.1:p.Leu596=
XM_011536677.1:c.1662G=	XP_011534979.1:p.Leu554=
XM_011536679.1:c.1215G=	XP_011534981.1:p.Leu405=
XR_943416.1:n.2185G=
XM_011536675.2:c.2121G=	XP_011534977.1:p.Leu707=
XM_011536676.2:c.1788G=	XP_011534978.1:p.Leu596=
XM_011536677.3:c.1662G=	XP_011534979.1:p.Leu554=
XR_001750279.1:n.2218G=
XR_001750282.1:n.2871G=
XR_943416.3:n.2183G=
NM_013382.6:c.1932G=	NP_037514.2:p.Leu644=
NM_013382.7:c.1932G= MANE Select	NP_037514.2:p.Leu644=