Canonical Allele Identifier: CA340666
Gene: ATP8B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7269
dbSNP Id: rs121909101

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57674993C>T , CM000680.2:g.57674993C>T GRCh38
NC_000018.9:g.55342225C>T , CM000680.1:g.55342225C>T GRCh37
NC_000018.8:g.53493223C>T NCBI36
NG_007148.2:g.133103G>A
NG_007148.3:g.133830G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642462.1:c.1660G>A ENSP00000494712.1:p.Asp554Asn
ENST00000648039.1:c.1660G>A ENSP00000497863.1:p.Asp554Asn
ENST00000648467.1:c.1525G>A
ENST00000648908.2:c.1660G>A MANE Select ENSP00000497896.1:p.Asp554Asn
ENST00000283684.8:c.1660G>A ENSP00000283684.4:p.Asp554Asn
ENST00000536015.5:c.1660G>A ENSP00000445359.1:p.Asp554Asn
NM_005603.4:c.1660G>A NP_005594.1:p.Asp554Asn
XM_006722481.2:c.1660G>A XP_006722544.1:p.Asp554Asn
XM_011526020.1:c.1660G>A XP_011524322.1:p.Asp554Asn
XM_011526021.1:c.1660G>A XP_011524323.1:p.Asp554Asn
XM_011526022.1:c.1660G>A XP_011524324.1:p.Asp554Asn
XM_011526023.1:c.1546G>A XP_011524325.1:p.Asp516Asn
XM_011526024.1:c.940G>A XP_011524326.1:p.Asp314Asn
NM_005603.6:c.1660G>A NP_005594.2:p.Asp554Asn
XM_006722481.4:c.1660G>A XP_006722544.1:p.Asp554Asn
XM_011526023.3:c.1546G>A XP_011524325.1:p.Asp516Asn
NM_001374385.1:c.1660G>A MANE Select NP_001361314.1:p.Asp554Asn
NM_001374386.1:c.1510G>A NP_001361315.1:p.Asp504Asn