Canonical Allele Identifier: CA402561121

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1422849081
• gnomAD v3: 18-57674918-T-C
• gnomAD v4: 18-57674918-T-C
• MyVariant Identifiers: chr18:g.55342150T>C (hg19) ; chr18:g.57674918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674918T>C , CM000680.2:g.57674918T>C	GRCh38
NC_000018.9:g.55342150T>C , CM000680.1:g.55342150T>C	GRCh37
NC_000018.8:g.53493148T>C	NCBI36
NG_007148.2:g.133178A>G
NG_007148.3:g.133905A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1735A>G	ENSP00000494712.1:p.Ile579Val
ENST00000648039.1:c.1735A>G	ENSP00000497863.1:p.Ile579Val
ENST00000648467.1:c.1600A>G
ENST00000648908.2:c.1735A>G MANE Select	ENSP00000497896.1:p.Ile579Val
ENST00000283684.8:c.1735A>G	ENSP00000283684.4:p.Ile579Val
ENST00000536015.5:c.1735A>G	ENSP00000445359.1:p.Ile579Val
NM_005603.4:c.1735A>G	NP_005594.1:p.Ile579Val
XM_006722481.2:c.1735A>G	XP_006722544.1:p.Ile579Val
XM_011526020.1:c.1735A>G	XP_011524322.1:p.Ile579Val
XM_011526021.1:c.1735A>G	XP_011524323.1:p.Ile579Val
XM_011526022.1:c.1735A>G	XP_011524324.1:p.Ile579Val
XM_011526023.1:c.1621A>G	XP_011524325.1:p.Ile541Val
XM_011526024.1:c.1015A>G	XP_011524326.1:p.Ile339Val
NM_005603.6:c.1735A>G	NP_005594.2:p.Ile579Val
XM_006722481.4:c.1735A>G	XP_006722544.1:p.Ile579Val
XM_011526023.3:c.1621A>G	XP_011524325.1:p.Ile541Val
NM_001374385.1:c.1735A>G MANE Select	NP_001361314.1:p.Ile579Val
NM_001374386.1:c.1585A>G	NP_001361315.1:p.Ile529Val