Canonical Allele Identifier: CA402541029

Gene: ATP8B1

Linked Data

• gnomAD v4: 18-57694606-G-C
• MyVariant Identifiers: chr18:g.55361838G>C (hg19) ; chr18:g.57694606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694606G>C , CM000680.2:g.57694606G>C	GRCh38
NC_000018.9:g.55361838G>C , CM000680.1:g.55361838G>C	GRCh37
NC_000018.8:g.53512836G>C	NCBI36
NG_007148.2:g.113490C>G
NG_007148.3:g.114217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1005C>G	ENSP00000494712.1:p.Tyr335Ter
ENST00000648039.1:c.1005C>G	ENSP00000497863.1:p.Tyr335Ter
ENST00000648467.1:c.838C>G
ENST00000648908.2:c.1005C>G MANE Select	ENSP00000497896.1:p.Tyr335Ter
ENST00000283684.8:c.1005C>G	ENSP00000283684.4:p.Tyr335Ter
ENST00000536015.5:c.1005C>G	ENSP00000445359.1:p.Tyr335Ter
NM_005603.4:c.1005C>G	NP_005594.1:p.Tyr335Ter
XM_006722481.2:c.1005C>G	XP_006722544.1:p.Tyr335Ter
XM_011526020.1:c.1005C>G	XP_011524322.1:p.Tyr335Ter
XM_011526021.1:c.1005C>G	XP_011524323.1:p.Tyr335Ter
XM_011526022.1:c.1005C>G	XP_011524324.1:p.Tyr335Ter
XM_011526023.1:c.891C>G	XP_011524325.1:p.Tyr297Ter
XM_011526024.1:c.285C>G	XP_011524326.1:p.Tyr95Ter
XR_935525.1:n.32-1339G>C
XR_935526.1:n.32-1339G>C
NM_005603.6:c.1005C>G	NP_005594.2:p.Tyr335Ter
XM_006722481.4:c.1005C>G	XP_006722544.1:p.Tyr335Ter
XM_011526023.3:c.891C>G	XP_011524325.1:p.Tyr297Ter
NM_001374385.1:c.1005C>G MANE Select	NP_001361314.1:p.Tyr335Ter
NM_001374386.1:c.855C>G	NP_001361315.1:p.Tyr285Ter