Canonical Allele Identifier: CA8974818

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 288710
• ClinVar RCV Id: RCV002521997
• dbSNP Id: rs369011228
• ExAC: 18:55368295 G / A
• gnomAD v2: 18-55368295-G-A
• gnomAD v3: 18-57701063-G-A
• gnomAD v4: 18-57701063-G-A
• MyVariant Identifiers: chr18:g.55368295G>A (hg19) ; chr18:g.57701063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57701063G>A , CM000680.2:g.57701063G>A	GRCh38
NC_000018.9:g.55368295G>A , CM000680.1:g.55368295G>A	GRCh37
NC_000018.8:g.53519293G>A	NCBI36
NG_007148.2:g.107033C>T
NG_007148.3:g.107760C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.530C>T	ENSP00000494712.1:p.Thr177Met
ENST00000648039.1:c.530C>T	ENSP00000497863.1:p.Thr177Met
ENST00000648467.1:c.363C>T
ENST00000648908.2:c.530C>T MANE Select	ENSP00000497896.1:p.Thr177Met
ENST00000283684.8:c.530C>T	ENSP00000283684.4:p.Thr177Met
ENST00000536015.5:c.530C>T	ENSP00000445359.1:p.Thr177Met
ENST00000589147.5:n.424C>T
NM_005603.4:c.530C>T	NP_005594.1:p.Thr177Met
XM_006722481.2:c.530C>T	XP_006722544.1:p.Thr177Met
XM_011526020.1:c.530C>T	XP_011524322.1:p.Thr177Met
XM_011526021.1:c.530C>T	XP_011524323.1:p.Thr177Met
XM_011526022.1:c.530C>T	XP_011524324.1:p.Thr177Met
XM_011526023.1:c.416C>T	XP_011524325.1:p.Thr139Met
XM_011526024.1:c.-166-3196C>T	XP_011524326.1:n.-166-3196C>T
XR_935525.1:n.123+5027G>A
XR_935526.1:n.123+5027G>A
NM_005603.6:c.530C>T	NP_005594.2:p.Thr177Met
XM_006722481.4:c.530C>T	XP_006722544.1:p.Thr177Met
XM_011526023.3:c.416C>T	XP_011524325.1:p.Thr139Met
NM_001374385.1:c.530C>T MANE Select	NP_001361314.1:p.Thr177Met
NM_001374386.1:c.380C>T	NP_001361315.1:p.Thr127Met