Canonical Allele Identifier: CA8974905

Gene: ATP8B1

Linked Data

• dbSNP Id: rs751422539
• ExAC: 18:55373716 A / G
• gnomAD v2: 18-55373716-A-G
• gnomAD v4: 18-57706484-A-G
• MyVariant Identifiers: chr18:g.55373716A>G (hg19) ; chr18:g.57706484A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57706484A>G , CM000680.2:g.57706484A>G	GRCh38
NC_000018.9:g.55373716A>G , CM000680.1:g.55373716A>G	GRCh37
NC_000018.8:g.53524714A>G	NCBI36
NG_007148.2:g.101612T>C
NG_007148.3:g.102339T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.279+6T>C	ENSP00000494712.1:n.279+6T>C
ENST00000648039.1:c.279+6T>C	ENSP00000497863.1:n.279+6T>C
ENST00000648467.1:c.226+6T>C
ENST00000648908.2:c.279+6T>C MANE Select	ENSP00000497896.1:n.279+6T>C
ENST00000283684.8:c.279+6T>C	ENSP00000283684.4:n.279+6T>C
ENST00000536015.5:c.279+6T>C	ENSP00000445359.1:n.279+6T>C
ENST00000589147.5:n.173+6T>C
ENST00000591728.1:c.182-1816T>C	ENSP00000467767.1:n.182-1816T>C
NM_005603.4:c.279+6T>C	NP_005594.1:n.279+6T>C
XM_006722481.2:c.279+6T>C	XP_006722544.1:n.279+6T>C
XM_011526020.1:c.279+6T>C	XP_011524322.1:n.279+6T>C
XM_011526021.1:c.279+6T>C	XP_011524323.1:n.279+6T>C
XM_011526022.1:c.279+6T>C	XP_011524324.1:n.279+6T>C
XM_011526023.1:c.279+6T>C	XP_011524325.1:n.279+6T>C
XR_935525.1:n.123+10448A>G
XR_935526.1:n.124-179A>G
NM_005603.6:c.279+6T>C	NP_005594.2:n.279+6T>C
XM_006722481.4:c.279+6T>C	XP_006722544.1:n.279+6T>C
XM_011526023.3:c.279+6T>C	XP_011524325.1:n.279+6T>C
NM_001374385.1:c.279+6T>C MANE Select	NP_001361314.1:n.279+6T>C
NM_001374386.1:c.130-1816T>C	NP_001361315.1:n.130-1816T>C