Canonical Allele Identifier: CA254133

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 7265
• ClinVar RCV Id: RCV000007687 ; RCV000734308 ; RCV003473052
• dbSNP Id: rs387906381
• ExAC: 18:55336548 A / G
• gnomAD v2: 18-55336548-A-G
• gnomAD v4: 18-57669316-A-G
• MyVariant Identifiers: chr18:g.55336548A>G (hg19) ; chr18:g.57669316A>G (hg38)
• PubMed: PMID:9500542

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57669316A>G , CM000680.2:g.57669316A>G	GRCh38
NC_000018.9:g.55336548A>G , CM000680.1:g.55336548A>G	GRCh37
NC_000018.8:g.53487546A>G	NCBI36
NG_007148.2:g.138780T>C
NG_007148.3:g.139507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.2097+2T>C	ENSP00000494712.1:n.2097+2T>C
ENST00000648039.1:c.2097+2T>C	ENSP00000497863.1:n.2097+2T>C
ENST00000648908.2:c.2097+2T>C MANE Select	ENSP00000497896.1:n.2097+2T>C
ENST00000283684.8:c.2097+2T>C	ENSP00000283684.4:n.2097+2T>C
ENST00000536015.5:c.2097+2T>C	ENSP00000445359.1:n.2097+2T>C
NM_005603.4:c.2097+2T>C	NP_005594.1:n.2097+2T>C
XM_006722481.2:c.2097+2T>C	XP_006722544.1:n.2097+2T>C
XM_011526020.1:c.2097+2T>C	XP_011524322.1:n.2097+2T>C
XM_011526021.1:c.2097+2T>C	XP_011524323.1:n.2097+2T>C
XM_011526022.1:c.2097+2T>C	XP_011524324.1:n.2097+2T>C
XM_011526023.1:c.1983+2T>C	XP_011524325.1:n.1983+2T>C
XM_011526024.1:c.1377+2T>C	XP_011524326.1:n.1377+2T>C
NM_005603.6:c.2097+2T>C	NP_005594.2:n.2097+2T>C
XM_006722481.4:c.2097+2T>C	XP_006722544.1:n.2097+2T>C
XM_011526023.3:c.1983+2T>C	XP_011524325.1:n.1983+2T>C
NM_001374385.1:c.2097+2T>C MANE Select	NP_001361314.1:n.2097+2T>C
NM_001374386.1:c.1947+2T>C	NP_001361315.1:n.1947+2T>C