Canonical Allele Identifier: CA402537661

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57688392C>T , CM000680.2:g.57688392C>T	GRCh38
NC_000018.9:g.55355624C>T , CM000680.1:g.55355624C>T	GRCh37
NC_000018.8:g.53506622C>T	NCBI36
NG_007148.2:g.119704G>A
NG_007148.3:g.120431G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001374385.1:c.1336G>A MANE Select	NP_001361314.1:p.Gly446Arg
ENST00000648908.2:c.1336G>A MANE Select	ENSP00000497896.1:p.Gly446Arg
NM_001374386.1:c.1186G>A	NP_001361315.1:p.Gly396Arg
NM_005603.4:c.1336G>A	NP_005594.1:p.Gly446Arg
NM_005603.6:c.1336G>A	NP_005594.2:p.Gly446Arg
ENST00000283684.8:c.1336G>A	ENSP00000283684.4:p.Gly446Arg
ENST00000536015.5:c.1336G>A	ENSP00000445359.1:p.Gly446Arg
ENST00000588255.1:c.64G>A	ENSP00000468266.1:p.Gly22Arg
ENST00000642462.1:c.1336G>A	ENSP00000494712.1:p.Gly446Arg
ENST00000648039.1:c.1336G>A	ENSP00000497863.1:p.Gly446Arg
ENST00000648467.1:c.1169G>A
XM_006722481.2:c.1336G>A	XP_006722544.1:p.Gly446Arg
XM_006722481.4:c.1336G>A	XP_006722544.1:p.Gly446Arg
XM_011526020.1:c.1336G>A	XP_011524322.1:p.Gly446Arg
XM_011526021.1:c.1336G>A	XP_011524323.1:p.Gly446Arg
XM_011526022.1:c.1336G>A	XP_011524324.1:p.Gly446Arg
XM_011526023.1:c.1222G>A	XP_011524325.1:p.Gly408Arg
XM_011526023.3:c.1222G>A	XP_011524325.1:p.Gly408Arg
XM_011526024.1:c.616G>A	XP_011524326.1:p.Gly206Arg
XR_935525.1:n.31+1809C>T
XR_935526.1:n.31+1809C>T