Canonical Allele Identifier: CA2306103201

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57675006C= , CM000680.2:g.57675006C=	GRCh38
NC_000018.9:g.55342238C= , CM000680.1:g.55342238C=	GRCh37
NC_000018.8:g.53493236C=	NCBI36
NG_007148.2:g.133090G=
NG_007148.3:g.133817G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1647G=	ENSP00000494712.1:p.Gln549=
ENST00000648039.1:c.1647G=	ENSP00000497863.1:p.Gln549=
ENST00000648467.1:c.1512G=
ENST00000648908.2:c.1647G= MANE Select	ENSP00000497896.1:p.Gln549=
ENST00000283684.8:c.1647G=	ENSP00000283684.4:p.Gln549=
ENST00000536015.5:c.1647G=	ENSP00000445359.1:p.Gln549=
NM_005603.4:c.1647G=	NP_005594.1:p.Gln549=
XM_006722481.2:c.1647G=	XP_006722544.1:p.Gln549=
XM_011526020.1:c.1647G=	XP_011524322.1:p.Gln549=
XM_011526021.1:c.1647G=	XP_011524323.1:p.Gln549=
XM_011526022.1:c.1647G=	XP_011524324.1:p.Gln549=
XM_011526023.1:c.1533G=	XP_011524325.1:p.Gln511=
XM_011526024.1:c.927G=	XP_011524326.1:p.Gln309=
NM_005603.6:c.1647G=	NP_005594.2:p.Gln549=
XM_006722481.4:c.1647G=	XP_006722544.1:p.Gln549=
XM_011526023.3:c.1533G=	XP_011524325.1:p.Gln511=
NM_001374385.1:c.1647G= MANE Select	NP_001361314.1:p.Gln549=
NM_001374386.1:c.1497G=	NP_001361315.1:p.Gln499=