Canonical Allele Identifier: CA2306109001

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1912355132
• gnomAD v4: 18-57688265-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57688265C>G , CM000680.2:g.57688265C>G	GRCh38
NC_000018.9:g.55355497C>G , CM000680.1:g.55355497C>G	GRCh37
NC_000018.8:g.53506495C>G	NCBI36
NG_007148.2:g.119831G>C
NG_007148.3:g.120558G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.1429+34G>C	ENSP00000494712.1:n.1429+34G>C
ENST00000648039.1:c.1429+34G>C	ENSP00000497863.1:n.1429+34G>C
ENST00000648467.1:c.1262+34G>C
ENST00000648908.2:c.1429+34G>C MANE Select	ENSP00000497896.1:n.1429+34G>C
ENST00000283684.8:c.1429+34G>C	ENSP00000283684.4:n.1429+34G>C
ENST00000536015.5:c.1429+34G>C	ENSP00000445359.1:n.1429+34G>C
ENST00000588255.1:c.157+34G>C	ENSP00000468266.1:n.157+34G>C
NM_005603.4:c.1429+34G>C	NP_005594.1:n.1429+34G>C
XM_006722481.2:c.1429+34G>C	XP_006722544.1:n.1429+34G>C
XM_011526020.1:c.1429+34G>C	XP_011524322.1:n.1429+34G>C
XM_011526021.1:c.1429+34G>C	XP_011524323.1:n.1429+34G>C
XM_011526022.1:c.1429+34G>C	XP_011524324.1:n.1429+34G>C
XM_011526023.1:c.1315+34G>C	XP_011524325.1:n.1315+34G>C
XM_011526024.1:c.709+34G>C	XP_011524326.1:n.709+34G>C
XR_935525.1:n.31+1682C>G
XR_935526.1:n.31+1682C>G
NM_005603.6:c.1429+34G>C	NP_005594.2:n.1429+34G>C
XM_006722481.4:c.1429+34G>C	XP_006722544.1:n.1429+34G>C
XM_011526023.3:c.1315+34G>C	XP_011524325.1:n.1315+34G>C
NM_001374385.1:c.1429+34G>C MANE Select	NP_001361314.1:n.1429+34G>C
NM_001374386.1:c.1279+34G>C	NP_001361315.1:n.1279+34G>C