Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278818G= , CM000676.2:g.77278818G=	GRCh38
NC_000014.8:g.77745161G= , CM000676.1:g.77745161G=	GRCh37
NC_000014.7:g.76814914G=	NCBI36
NG_008897.1:g.47065C= , LRG_844:g.47065C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.868C=
ENST00000556394.2:c.1484C=	ENSP00000451967.2:p.Thr495=
ENST00000682128.1:c.244C=	ENSP00000506976.1:n.244C=
ENST00000682247.1:c.1932C=	ENSP00000507213.1:p.Asp644=
ENST00000682395.1:n.2407C=
ENST00000682459.1:n.1646C=
ENST00000682467.1:c.1892-310C=	ENSP00000508062.1:n.1892-310C=
ENST00000682615.1:n.297C=
ENST00000682795.1:c.2090C=	ENSP00000507574.1:p.Thr697=
ENST00000682895.1:n.1659C=
ENST00000682955.1:n.1517C=
ENST00000683095.1:c.349C=	ENSP00000508040.1:n.349C=
ENST00000683188.1:c.2204C=
ENST00000683380.1:n.1607C=
ENST00000683828.1:c.1652C=
ENST00000683907.1:c.208C=	ENSP00000507754.1:p.His70=
ENST00000684172.1:c.319C=	ENSP00000508391.1:n.319C=
ENST00000684259.1:n.3710C=
ENST00000684538.1:n.1322C=
ENST00000684549.1:n.1494C=
ENST00000261534.9:c.1943C= MANE Select	ENSP00000261534.4:p.Thr648=
ENST00000261534.8:c.1943C=	ENSP00000261534.4:p.Thr648=
ENST00000452340.7:n.2919C=
ENST00000554767.5:n.2729C=
ENST00000555134.1:n.868C=
ENST00000555710.1:c.304C=	ENSP00000451730.1:n.304C=
ENST00000556171.1:c.535C=
ENST00000556394.1:c.88-310C=
ENST00000556446.1:n.244C=
ENST00000602717.5:c.158C=	ENSP00000487704.1:p.Thr53=
NM_013382.5:c.1943C= , LRG_844t1:c.1943C=	NP_037514.2:p.Thr648=
XM_011536675.1:c.2132C=	XP_011534977.1:p.Thr711=
XM_011536676.1:c.1799C=	XP_011534978.1:p.Thr600=
XM_011536677.1:c.1673C=	XP_011534979.1:p.Thr558=
XM_011536679.1:c.1226C=	XP_011534981.1:p.Thr409=
XR_943416.1:n.2196C=
XM_011536675.2:c.2132C=	XP_011534977.1:p.Thr711=
XM_011536676.2:c.1799C=	XP_011534978.1:p.Thr600=
XM_011536677.3:c.1673C=	XP_011534979.1:p.Thr558=
XR_001750279.1:n.2229C=
XR_001750282.1:n.2882C=
XR_943416.3:n.2194C=
NM_013382.6:c.1943C=	NP_037514.2:p.Thr648=
NM_013382.7:c.1943C= MANE Select	NP_037514.2:p.Thr648=