Canonical Allele Identifier: CA402540953

Gene: ATP8B1

Linked Data

• gnomAD v4: 18-57694594-G-T
• MyVariant Identifiers: chr18:g.55361826G>T (hg19) ; chr18:g.57694594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694594G>T , CM000680.2:g.57694594G>T	GRCh38
NC_000018.9:g.55361826G>T , CM000680.1:g.55361826G>T	GRCh37
NC_000018.8:g.53512824G>T	NCBI36
NG_007148.2:g.113502C>A
NG_007148.3:g.114229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1017C>A	ENSP00000494712.1:p.Tyr339Ter
ENST00000648039.1:c.1017C>A	ENSP00000497863.1:p.Tyr339Ter
ENST00000648467.1:c.850C>A
ENST00000648908.2:c.1017C>A MANE Select	ENSP00000497896.1:p.Tyr339Ter
ENST00000283684.8:c.1017C>A	ENSP00000283684.4:p.Tyr339Ter
ENST00000536015.5:c.1017C>A	ENSP00000445359.1:p.Tyr339Ter
NM_005603.4:c.1017C>A	NP_005594.1:p.Tyr339Ter
XM_006722481.2:c.1017C>A	XP_006722544.1:p.Tyr339Ter
XM_011526020.1:c.1017C>A	XP_011524322.1:p.Tyr339Ter
XM_011526021.1:c.1017C>A	XP_011524323.1:p.Tyr339Ter
XM_011526022.1:c.1017C>A	XP_011524324.1:p.Tyr339Ter
XM_011526023.1:c.903C>A	XP_011524325.1:p.Tyr301Ter
XM_011526024.1:c.297C>A	XP_011524326.1:p.Tyr99Ter
XR_935525.1:n.32-1351G>T
XR_935526.1:n.32-1351G>T
NM_005603.6:c.1017C>A	NP_005594.2:p.Tyr339Ter
XM_006722481.4:c.1017C>A	XP_006722544.1:p.Tyr339Ter
XM_011526023.3:c.903C>A	XP_011524325.1:p.Tyr301Ter
NM_001374385.1:c.1017C>A MANE Select	NP_001361314.1:p.Tyr339Ter
NM_001374386.1:c.867C>A	NP_001361315.1:p.Tyr289Ter