Canonical Allele Identifier: CA8974398

Gene: ATP8B1

Linked Data

• dbSNP Id: rs146392616
• ExAC: 18:55336552 T / G
• gnomAD v2: 18-55336552-T-G
• gnomAD v3: 18-57669320-T-G
• gnomAD v4: 18-57669320-T-G
• MyVariant Identifiers: chr18:g.55336552T>G (hg19) ; chr18:g.57669320T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57669320T>G , CM000680.2:g.57669320T>G	GRCh38
NC_000018.9:g.55336552T>G , CM000680.1:g.55336552T>G	GRCh37
NC_000018.8:g.53487550T>G	NCBI36
NG_007148.2:g.138776A>C
NG_007148.3:g.139503A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.2095A>C	ENSP00000494712.1:p.Ile699Leu
ENST00000648039.1:c.2095A>C	ENSP00000497863.1:p.Ile699Leu
ENST00000648908.2:c.2095A>C MANE Select	ENSP00000497896.1:p.Ile699Leu
ENST00000283684.8:c.2095A>C	ENSP00000283684.4:p.Ile699Leu
ENST00000536015.5:c.2095A>C	ENSP00000445359.1:p.Ile699Leu
NM_005603.4:c.2095A>C	NP_005594.1:p.Ile699Leu
XM_006722481.2:c.2095A>C	XP_006722544.1:p.Ile699Leu
XM_011526020.1:c.2095A>C	XP_011524322.1:p.Ile699Leu
XM_011526021.1:c.2095A>C	XP_011524323.1:p.Ile699Leu
XM_011526022.1:c.2095A>C	XP_011524324.1:p.Ile699Leu
XM_011526023.1:c.1981A>C	XP_011524325.1:p.Ile661Leu
XM_011526024.1:c.1375A>C	XP_011524326.1:p.Ile459Leu
NM_005603.6:c.2095A>C	NP_005594.2:p.Ile699Leu
XM_006722481.4:c.2095A>C	XP_006722544.1:p.Ile699Leu
XM_011526023.3:c.1981A>C	XP_011524325.1:p.Ile661Leu
NM_001374385.1:c.2095A>C MANE Select	NP_001361314.1:p.Ile699Leu
NM_001374386.1:c.1945A>C	NP_001361315.1:p.Ile649Leu