Canonical Allele Identifier: CA254134

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 7267
• ClinVar RCV Id: RCV000007689 ; RCV000007690 ; RCV000723736 ; RCV003155019 ; RCV004547464
• dbSNP Id: rs121909100
• ExAC: 18:55336665 A / G
• gnomAD v2: 18-55336665-A-G
• gnomAD v3: 18-57669433-A-G
• gnomAD v4: 18-57669433-A-G
• MyVariant Identifiers: chr18:g.55336665A>G (hg19) ; chr18:g.57669433A>G (hg38)
• PubMed: PMID:5807632 ; PMID:9500542 ; PMID:9918928 ; PMID:15239083 ; PMID:20301474 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57669433A>G , CM000680.2:g.57669433A>G	GRCh38
NC_000018.9:g.55336665A>G , CM000680.1:g.55336665A>G	GRCh37
NC_000018.8:g.53487663A>G	NCBI36
NG_007148.2:g.138663T>C
NG_007148.3:g.139390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1982T>C	ENSP00000494712.1:p.Ile661Thr
ENST00000648039.1:c.1982T>C	ENSP00000497863.1:p.Ile661Thr
ENST00000648467.1:c.1847T>C
ENST00000648908.2:c.1982T>C MANE Select	ENSP00000497896.1:p.Ile661Thr
ENST00000283684.8:c.1982T>C	ENSP00000283684.4:p.Ile661Thr
ENST00000536015.5:c.1982T>C	ENSP00000445359.1:p.Ile661Thr
NM_005603.4:c.1982T>C	NP_005594.1:p.Ile661Thr
XM_006722481.2:c.1982T>C	XP_006722544.1:p.Ile661Thr
XM_011526020.1:c.1982T>C	XP_011524322.1:p.Ile661Thr
XM_011526021.1:c.1982T>C	XP_011524323.1:p.Ile661Thr
XM_011526022.1:c.1982T>C	XP_011524324.1:p.Ile661Thr
XM_011526023.1:c.1868T>C	XP_011524325.1:p.Ile623Thr
XM_011526024.1:c.1262T>C	XP_011524326.1:p.Ile421Thr
NM_005603.6:c.1982T>C	NP_005594.2:p.Ile661Thr
XM_006722481.4:c.1982T>C	XP_006722544.1:p.Ile661Thr
XM_011526023.3:c.1868T>C	XP_011524325.1:p.Ile623Thr
NM_001374385.1:c.1982T>C MANE Select	NP_001361314.1:p.Ile661Thr
NM_001374386.1:c.1832T>C	NP_001361315.1:p.Ile611Thr