Canonical Allele Identifier: CA504021353

Gene: ATP8B1

Linked Data

• MyVariant Identifiers: chr18:g.55342229A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674997A>T , CM000680.2:g.57674997A>T	GRCh38
NC_000018.9:g.55342229A>T , CM000680.1:g.55342229A>T	GRCh37
NC_000018.8:g.53493227A>T	NCBI36
NG_007148.2:g.133099T>A
NG_007148.3:g.133826T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.1656T>A	ENSP00000494712.1:p.Ser552=
ENST00000648039.1:c.1656T>A	ENSP00000497863.1:p.Ser552=
ENST00000648467.1:c.1521T>A
ENST00000648908.2:c.1656T>A MANE Select	ENSP00000497896.1:p.Ser552=
ENST00000283684.8:c.1656T>A	ENSP00000283684.4:p.Ser552=
ENST00000536015.5:c.1656T>A	ENSP00000445359.1:p.Ser552=
NM_005603.4:c.1656T>A	NP_005594.1:p.Ser552=
XM_006722481.2:c.1656T>A	XP_006722544.1:p.Ser552=
XM_011526020.1:c.1656T>A	XP_011524322.1:p.Ser552=
XM_011526021.1:c.1656T>A	XP_011524323.1:p.Ser552=
XM_011526022.1:c.1656T>A	XP_011524324.1:p.Ser552=
XM_011526023.1:c.1542T>A	XP_011524325.1:p.Ser514=
XM_011526024.1:c.936T>A	XP_011524326.1:p.Ser312=
NM_005603.6:c.1656T>A	NP_005594.2:p.Ser552=
XM_006722481.4:c.1656T>A	XP_006722544.1:p.Ser552=
XM_011526023.3:c.1542T>A	XP_011524325.1:p.Ser514=
NM_001374385.1:c.1656T>A MANE Select	NP_001361314.1:p.Ser552=
NM_001374386.1:c.1506T>A	NP_001361315.1:p.Ser502=