Canonical Allele Identifier: CA402540893

Gene: ATP8B1

Linked Data

• gnomAD v4: 18-57694585-G-T
• MyVariant Identifiers: chr18:g.55361817G>T (hg19) ; chr18:g.57694585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694585G>T , CM000680.2:g.57694585G>T	GRCh38
NC_000018.9:g.55361817G>T , CM000680.1:g.55361817G>T	GRCh37
NC_000018.8:g.53512815G>T	NCBI36
NG_007148.2:g.113511C>A
NG_007148.3:g.114238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1026C>A	ENSP00000494712.1:p.Tyr342Ter
ENST00000648039.1:c.1026C>A	ENSP00000497863.1:p.Tyr342Ter
ENST00000648467.1:c.859C>A
ENST00000648908.2:c.1026C>A MANE Select	ENSP00000497896.1:p.Tyr342Ter
ENST00000283684.8:c.1026C>A	ENSP00000283684.4:p.Tyr342Ter
ENST00000536015.5:c.1026C>A	ENSP00000445359.1:p.Tyr342Ter
NM_005603.4:c.1026C>A	NP_005594.1:p.Tyr342Ter
XM_006722481.2:c.1026C>A	XP_006722544.1:p.Tyr342Ter
XM_011526020.1:c.1026C>A	XP_011524322.1:p.Tyr342Ter
XM_011526021.1:c.1026C>A	XP_011524323.1:p.Tyr342Ter
XM_011526022.1:c.1026C>A	XP_011524324.1:p.Tyr342Ter
XM_011526023.1:c.912C>A	XP_011524325.1:p.Tyr304Ter
XM_011526024.1:c.306C>A	XP_011524326.1:p.Tyr102Ter
XR_935525.1:n.32-1360G>T
XR_935526.1:n.32-1360G>T
NM_005603.6:c.1026C>A	NP_005594.2:p.Tyr342Ter
XM_006722481.4:c.1026C>A	XP_006722544.1:p.Tyr342Ter
XM_011526023.3:c.912C>A	XP_011524325.1:p.Tyr304Ter
NM_001374385.1:c.1026C>A MANE Select	NP_001361314.1:p.Tyr342Ter
NM_001374386.1:c.876C>A	NP_001361315.1:p.Tyr292Ter