Canonical Allele Identifier: CA504021224

Gene: ATP8B1

Linked Data

• MyVariant Identifiers: chr18:g.55342139C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674907C>G , CM000680.2:g.57674907C>G	GRCh38
NC_000018.9:g.55342139C>G , CM000680.1:g.55342139C>G	GRCh37
NC_000018.8:g.53493137C>G	NCBI36
NG_007148.2:g.133189G>C
NG_007148.3:g.133916G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.1746G>C	ENSP00000494712.1:p.Leu582=
ENST00000648039.1:c.1746G>C	ENSP00000497863.1:p.Leu582=
ENST00000648467.1:c.1611G>C
ENST00000648908.2:c.1746G>C MANE Select	ENSP00000497896.1:p.Leu582=
ENST00000283684.8:c.1746G>C	ENSP00000283684.4:p.Leu582=
ENST00000536015.5:c.1746G>C	ENSP00000445359.1:p.Leu582=
NM_005603.4:c.1746G>C	NP_005594.1:p.Leu582=
XM_006722481.2:c.1746G>C	XP_006722544.1:p.Leu582=
XM_011526020.1:c.1746G>C	XP_011524322.1:p.Leu582=
XM_011526021.1:c.1746G>C	XP_011524323.1:p.Leu582=
XM_011526022.1:c.1746G>C	XP_011524324.1:p.Leu582=
XM_011526023.1:c.1632G>C	XP_011524325.1:p.Leu544=
XM_011526024.1:c.1026G>C	XP_011524326.1:p.Leu342=
NM_005603.6:c.1746G>C	NP_005594.2:p.Leu582=
XM_006722481.4:c.1746G>C	XP_006722544.1:p.Leu582=
XM_011526023.3:c.1632G>C	XP_011524325.1:p.Leu544=
NM_001374385.1:c.1746G>C MANE Select	NP_001361314.1:p.Leu582=
NM_001374386.1:c.1596G>C	NP_001361315.1:p.Leu532=