Canonical Allele Identifier: CA2306116703

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57706468A= , CM000680.2:g.57706468A=	GRCh38
NC_000018.9:g.55373700A= , CM000680.1:g.55373700A=	GRCh37
NC_000018.8:g.53524698A=	NCBI36
NG_007148.2:g.101628T=
NG_007148.3:g.102355T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.279+22T=	ENSP00000494712.1:n.279+22T=
ENST00000648039.1:c.279+22T=	ENSP00000497863.1:n.279+22T=
ENST00000648467.1:c.226+22T=
ENST00000648908.2:c.279+22T= MANE Select	ENSP00000497896.1:n.279+22T=
ENST00000283684.8:c.279+22T=	ENSP00000283684.4:n.279+22T=
ENST00000536015.5:c.279+22T=	ENSP00000445359.1:n.279+22T=
ENST00000589147.5:n.173+22T=
ENST00000591728.1:c.182-1800T=	ENSP00000467767.1:n.182-1800T=
NM_005603.4:c.279+22T=	NP_005594.1:n.279+22T=
XM_006722481.2:c.279+22T=	XP_006722544.1:n.279+22T=
XM_011526020.1:c.279+22T=	XP_011524322.1:n.279+22T=
XM_011526021.1:c.279+22T=	XP_011524323.1:n.279+22T=
XM_011526022.1:c.279+22T=	XP_011524324.1:n.279+22T=
XM_011526023.1:c.279+22T=	XP_011524325.1:n.279+22T=
XR_935525.1:n.123+10432A=
XR_935526.1:n.124-195A=
NM_005603.6:c.279+22T=	NP_005594.2:n.279+22T=
XM_006722481.4:c.279+22T=	XP_006722544.1:n.279+22T=
XM_011526023.3:c.279+22T=	XP_011524325.1:n.279+22T=
NM_001374385.1:c.279+22T= MANE Select	NP_001361314.1:n.279+22T=
NM_001374386.1:c.130-1800T=	NP_001361315.1:n.130-1800T=