Canonical Allele Identifier: CA247228

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 198532
• ClinVar RCV Id: RCV000179906 ; RCV000724145 ; RCV001123726 ; RCV002485177 ; RCV004553016
• dbSNP Id: rs56355310
• ExAC: 18:55365047 T / C
• gnomAD v2: 18-55365047-T-C
• gnomAD v3: 18-57697815-T-C
• gnomAD v4: 18-57697815-T-C
• MyVariant Identifiers: chr18:g.55365047T>C (hg19) ; chr18:g.57697815T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57697815T>C , CM000680.2:g.57697815T>C	GRCh38
NC_000018.9:g.55365047T>C , CM000680.1:g.55365047T>C	GRCh37
NC_000018.8:g.53516045T>C	NCBI36
NG_007148.2:g.110281A>G
NG_007148.3:g.111008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.607A>G	ENSP00000494712.1:p.Lys203Glu
ENST00000648039.1:c.607A>G	ENSP00000497863.1:p.Lys203Glu
ENST00000648467.1:c.440A>G
ENST00000648908.2:c.607A>G MANE Select	ENSP00000497896.1:p.Lys203Glu
ENST00000283684.8:c.607A>G	ENSP00000283684.4:p.Lys203Glu
ENST00000536015.5:c.607A>G	ENSP00000445359.1:p.Lys203Glu
ENST00000589147.5:n.501A>G
NM_005603.4:c.607A>G	NP_005594.1:p.Lys203Glu
XM_006722481.2:c.607A>G	XP_006722544.1:p.Lys203Glu
XM_011526020.1:c.607A>G	XP_011524322.1:p.Lys203Glu
XM_011526021.1:c.607A>G	XP_011524323.1:p.Lys203Glu
XM_011526022.1:c.607A>G	XP_011524324.1:p.Lys203Glu
XM_011526023.1:c.493A>G	XP_011524325.1:p.Lys165Glu
XM_011526024.1:c.-114A>G	XP_011524326.1:n.-114A>G
XR_935525.1:n.123+1779T>C
XR_935526.1:n.123+1779T>C
NM_005603.6:c.607A>G	NP_005594.2:p.Lys203Glu
XM_006722481.4:c.607A>G	XP_006722544.1:p.Lys203Glu
XM_011526023.3:c.493A>G	XP_011524325.1:p.Lys165Glu
NM_001374385.1:c.607A>G MANE Select	NP_001361314.1:p.Lys203Glu
NM_001374386.1:c.457A>G	NP_001361315.1:p.Lys153Glu