Canonical Allele Identifier: CA8974487

Gene: ATP8B1

Linked Data

• dbSNP Id: rs111938328
• ExAC: 18:55342134 G / A
• gnomAD v2: 18-55342134-G-A
• gnomAD v4: 18-57674902-G-A
• MyVariant Identifiers: chr18:g.55342134G>A (hg19) ; chr18:g.57674902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674902G>A , CM000680.2:g.57674902G>A	GRCh38
NC_000018.9:g.55342134G>A , CM000680.1:g.55342134G>A	GRCh37
NC_000018.8:g.53493132G>A	NCBI36
NG_007148.2:g.133194C>T
NG_007148.3:g.133921C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.1751C>T	ENSP00000494712.1:p.Thr584Ile
ENST00000648039.1:c.1751C>T	ENSP00000497863.1:p.Thr584Ile
ENST00000648467.1:c.1616C>T
ENST00000648908.2:c.1751C>T MANE Select	ENSP00000497896.1:p.Thr584Ile
ENST00000283684.8:c.1751C>T	ENSP00000283684.4:p.Thr584Ile
ENST00000536015.5:c.1751C>T	ENSP00000445359.1:p.Thr584Ile
NM_005603.4:c.1751C>T	NP_005594.1:p.Thr584Ile
XM_006722481.2:c.1751C>T	XP_006722544.1:p.Thr584Ile
XM_011526020.1:c.1751C>T	XP_011524322.1:p.Thr584Ile
XM_011526021.1:c.1751C>T	XP_011524323.1:p.Thr584Ile
XM_011526022.1:c.1751C>T	XP_011524324.1:p.Thr584Ile
XM_011526023.1:c.1637C>T	XP_011524325.1:p.Thr546Ile
XM_011526024.1:c.1031C>T	XP_011524326.1:p.Thr344Ile
NM_005603.6:c.1751C>T	NP_005594.2:p.Thr584Ile
XM_006722481.4:c.1751C>T	XP_006722544.1:p.Thr584Ile
XM_011526023.3:c.1637C>T	XP_011524325.1:p.Thr546Ile
NM_001374385.1:c.1751C>T MANE Select	NP_001361314.1:p.Thr584Ile
NM_001374386.1:c.1601C>T	NP_001361315.1:p.Thr534Ile