Canonical Allele Identifier: CA10641883

Gene: ATP8B1 ATP8B1-AS1

Linked Data

• ClinVar Variation Id: 327469
• ClinVar RCV Id: RCV000296358 ; RCV003765896
• dbSNP Id: rs886054009
• gnomAD v4: 18-57650448-G-A
• MyVariant Identifiers: chr18:g.55317680G>A (hg19) ; chr18:g.57650448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57650448G>A , CM000680.2:g.57650448G>A	GRCh38
NC_000018.9:g.55317680G>A , CM000680.1:g.55317680G>A	GRCh37
NC_000018.8:g.53468678G>A	NCBI36
NG_007148.2:g.157648C>T
NG_007148.3:g.158375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.*682C>T (ATP8B1)	ENSP00000494712.1:n.*682C>T
ENST00000648039.1:c.*682C>T (ATP8B1)	ENSP00000497863.1:n.*682C>T
ENST00000648908.2:c.3450C>T (ATP8B1) MANE Select	ENSP00000497896.1:p.Ile1150=
ENST00000283684.8:c.3450C>T (ATP8B1)	ENSP00000283684.4:p.Ile1150=
ENST00000536015.5:c.3450C>T (ATP8B1)	ENSP00000445359.1:p.Ile1150=
NM_001242804.1:c.139+8396G>A (ATP8B1-AS1)	NP_001229733.1:n.139+8396G>A
NM_005603.4:c.3450C>T (ATP8B1)	NP_005594.1:p.Ile1150=
XM_006722481.2:c.3450C>T (ATP8B1)	XP_006722544.1:p.Ile1150=
XM_011526020.1:c.3450C>T (ATP8B1)	XP_011524322.1:p.Ile1150=
XM_011526021.1:c.3450C>T (ATP8B1)	XP_011524323.1:p.Ile1150=
XM_011526022.1:c.3450C>T (ATP8B1)	XP_011524324.1:p.Ile1150=
XM_011526023.1:c.3336C>T (ATP8B1)	XP_011524325.1:p.Ile1112=
XM_011526024.1:c.2730C>T (ATP8B1)	XP_011524326.1:p.Ile910=
NM_005603.6:c.3450C>T (ATP8B1)	NP_005594.2:p.Ile1150=
XM_006722481.4:c.3450C>T (ATP8B1)	XP_006722544.1:p.Ile1150=
XM_011526023.3:c.3336C>T (ATP8B1)	XP_011524325.1:p.Ile1112=
NM_001374385.1:c.3450C>T (ATP8B1) MANE Select	NP_001361314.1:p.Ile1150=
NM_001374386.1:c.3300C>T (ATP8B1)	NP_001361315.1:p.Ile1100=
NR_164148.1:n.682+8396G>A (ATP8B1-AS1)