Canonical Allele Identifier: CA8974085

Gene: ATP8B1 ATP8B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57652704C>T , CM000680.2:g.57652704C>T	GRCh38
NC_000018.9:g.55319936C>T , CM000680.1:g.55319936C>T	GRCh37
NC_000018.8:g.53470934C>T	NCBI36
NG_007148.2:g.155392G>A
NG_007148.3:g.156119G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001374385.1:c.3041G>A (ATP8B1) MANE Select	NP_001361314.1:p.Arg1014Gln
ENST00000648908.2:c.3041G>A (ATP8B1) MANE Select	ENSP00000497896.1:p.Arg1014Gln
NM_001242804.1:c.139+10652C>T (ATP8B1-AS1)	NP_001229733.1:n.139+10652C>T
NM_001374386.1:c.2891G>A (ATP8B1)	NP_001361315.1:p.Arg964Gln
NM_005603.4:c.3041G>A (ATP8B1)	NP_005594.1:p.Arg1014Gln
NM_005603.6:c.3041G>A (ATP8B1)	NP_005594.2:p.Arg1014Gln
NR_164148.1:n.682+10652C>T (ATP8B1-AS1)
ENST00000283684.8:c.3041G>A (ATP8B1)	ENSP00000283684.4:p.Arg1014Gln
ENST00000536015.5:c.3041G>A (ATP8B1)	ENSP00000445359.1:p.Arg1014Gln
ENST00000642462.1:c.*273G>A (ATP8B1)	ENSP00000494712.1:n.*273G>A
ENST00000648039.1:c.*273G>A (ATP8B1)	ENSP00000497863.1:n.*273G>A
XM_006722481.2:c.3041G>A (ATP8B1)	XP_006722544.1:p.Arg1014Gln
XM_006722481.4:c.3041G>A (ATP8B1)	XP_006722544.1:p.Arg1014Gln
XM_011526020.1:c.3041G>A (ATP8B1)	XP_011524322.1:p.Arg1014Gln
XM_011526021.1:c.3041G>A (ATP8B1)	XP_011524323.1:p.Arg1014Gln
XM_011526022.1:c.3041G>A (ATP8B1)	XP_011524324.1:p.Arg1014Gln
XM_011526023.1:c.2927G>A (ATP8B1)	XP_011524325.1:p.Arg976Gln
XM_011526023.3:c.2927G>A (ATP8B1)	XP_011524325.1:p.Arg976Gln
XM_011526024.1:c.2321G>A (ATP8B1)	XP_011524326.1:p.Arg774Gln