Canonical Allele Identifier: CA118646

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 7271
• ClinVar RCV Id: RCV000007694 ; RCV000177233 ; RCV000661994 ; RCV000661995 ; RCV000661996 ; RCV000952767
• dbSNP Id: rs34719006
• ExAC: 18:55373793 C / T
• gnomAD v2: 18-55373793-C-T
• gnomAD v3: 18-57706561-C-T
• gnomAD v4: 18-57706561-C-T
• MyVariant Identifiers: chr18:g.55373793C>T (hg19) ; chr18:g.57706561C>T (hg38)
• PubMed: PMID:15239083 ; PMID:15888793 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57706561C>T , CM000680.2:g.57706561C>T	GRCh38
NC_000018.9:g.55373793C>T , CM000680.1:g.55373793C>T	GRCh37
NC_000018.8:g.53524791C>T	NCBI36
NG_007148.2:g.101535G>A
NG_007148.3:g.102262G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.208G>A	ENSP00000494712.1:p.Asp70Asn
ENST00000648039.1:c.208G>A	ENSP00000497863.1:p.Asp70Asn
ENST00000648467.1:c.155G>A
ENST00000648908.2:c.208G>A MANE Select	ENSP00000497896.1:p.Asp70Asn
ENST00000283684.8:c.208G>A	ENSP00000283684.4:p.Asp70Asn
ENST00000536015.5:c.208G>A	ENSP00000445359.1:p.Asp70Asn
ENST00000589147.5:n.102G>A
ENST00000591728.1:c.182-1893G>A	ENSP00000467767.1:n.182-1893G>A
NM_005603.4:c.208G>A	NP_005594.1:p.Asp70Asn
XM_006722481.2:c.208G>A	XP_006722544.1:p.Asp70Asn
XM_011526020.1:c.208G>A	XP_011524322.1:p.Asp70Asn
XM_011526021.1:c.208G>A	XP_011524323.1:p.Asp70Asn
XM_011526022.1:c.208G>A	XP_011524324.1:p.Asp70Asn
XM_011526023.1:c.208G>A	XP_011524325.1:p.Asp70Asn
XR_935525.1:n.123+10525C>T
XR_935526.1:n.124-102C>T
NM_005603.6:c.208G>A	NP_005594.2:p.Asp70Asn
XM_006722481.4:c.208G>A	XP_006722544.1:p.Asp70Asn
XM_011526023.3:c.208G>A	XP_011524325.1:p.Asp70Asn
NM_001374385.1:c.208G>A MANE Select	NP_001361314.1:p.Asp70Asn
NM_001374386.1:c.130-1893G>A	NP_001361315.1:n.130-1893G>A