Canonical Allele Identifier: CA8974592

Gene: ATP8B1

Linked Data

• dbSNP Id: rs770402402
• ExAC: 18:55355521 T / A
• gnomAD v2: 18-55355521-T-A
• MyVariant Identifiers: chr18:g.55355521T>A (hg19) ; chr18:g.57688289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57688289T>A , CM000680.2:g.57688289T>A	GRCh38
NC_000018.9:g.55355521T>A , CM000680.1:g.55355521T>A	GRCh37
NC_000018.8:g.53506519T>A	NCBI36
NG_007148.2:g.119807A>T
NG_007148.3:g.120534A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.1429+10A>T	ENSP00000494712.1:n.1429+10A>T
ENST00000648039.1:c.1429+10A>T	ENSP00000497863.1:n.1429+10A>T
ENST00000648467.1:c.1262+10A>T
ENST00000648908.2:c.1429+10A>T MANE Select	ENSP00000497896.1:n.1429+10A>T
ENST00000283684.8:c.1429+10A>T	ENSP00000283684.4:n.1429+10A>T
ENST00000536015.5:c.1429+10A>T	ENSP00000445359.1:n.1429+10A>T
ENST00000588255.1:c.157+10A>T	ENSP00000468266.1:n.157+10A>T
NM_005603.4:c.1429+10A>T	NP_005594.1:n.1429+10A>T
XM_006722481.2:c.1429+10A>T	XP_006722544.1:n.1429+10A>T
XM_011526020.1:c.1429+10A>T	XP_011524322.1:n.1429+10A>T
XM_011526021.1:c.1429+10A>T	XP_011524323.1:n.1429+10A>T
XM_011526022.1:c.1429+10A>T	XP_011524324.1:n.1429+10A>T
XM_011526023.1:c.1315+10A>T	XP_011524325.1:n.1315+10A>T
XM_011526024.1:c.709+10A>T	XP_011524326.1:n.709+10A>T
XR_935525.1:n.31+1706T>A
XR_935526.1:n.31+1706T>A
NM_005603.6:c.1429+10A>T	NP_005594.2:n.1429+10A>T
XM_006722481.4:c.1429+10A>T	XP_006722544.1:n.1429+10A>T
XM_011526023.3:c.1315+10A>T	XP_011524325.1:n.1315+10A>T
NM_001374385.1:c.1429+10A>T MANE Select	NP_001361314.1:n.1429+10A>T
NM_001374386.1:c.1279+10A>T	NP_001361315.1:n.1279+10A>T