Canonical Allele Identifier: CA504013200

Gene: ATP8B1 ATP8B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57652047T>G , CM000680.2:g.57652047T>G	GRCh38
NC_000018.9:g.55319279T>G , CM000680.1:g.55319279T>G	GRCh37
NC_000018.8:g.53470277T>G	NCBI36
NG_007148.2:g.156049A>C
NG_007148.3:g.156776A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001374385.1:c.3387A>C (ATP8B1) MANE Select	NP_001361314.1:p.Ala1129=
ENST00000648908.2:c.3387A>C (ATP8B1) MANE Select	ENSP00000497896.1:p.Ala1129=
NM_001242804.1:c.139+9995T>G (ATP8B1-AS1)	NP_001229733.1:n.139+9995T>G
NM_001374386.1:c.3237A>C (ATP8B1)	NP_001361315.1:p.Ala1079=
NM_005603.4:c.3387A>C (ATP8B1)	NP_005594.1:p.Ala1129=
NM_005603.6:c.3387A>C (ATP8B1)	NP_005594.2:p.Ala1129=
NR_164148.1:n.682+9995T>G (ATP8B1-AS1)
ENST00000283684.8:c.3387A>C (ATP8B1)	ENSP00000283684.4:p.Ala1129=
ENST00000536015.5:c.3387A>C (ATP8B1)	ENSP00000445359.1:p.Ala1129=
ENST00000642462.1:c.*619A>C (ATP8B1)	ENSP00000494712.1:n.*619A>C
ENST00000648039.1:c.*619A>C (ATP8B1)	ENSP00000497863.1:n.*619A>C
XM_006722481.2:c.3387A>C (ATP8B1)	XP_006722544.1:p.Ala1129=
XM_006722481.4:c.3387A>C (ATP8B1)	XP_006722544.1:p.Ala1129=
XM_011526020.1:c.3387A>C (ATP8B1)	XP_011524322.1:p.Ala1129=
XM_011526021.1:c.3387A>C (ATP8B1)	XP_011524323.1:p.Ala1129=
XM_011526022.1:c.3387A>C (ATP8B1)	XP_011524324.1:p.Ala1129=
XM_011526023.1:c.3273A>C (ATP8B1)	XP_011524325.1:p.Ala1091=
XM_011526023.3:c.3273A>C (ATP8B1)	XP_011524325.1:p.Ala1091=
XM_011526024.1:c.2667A>C (ATP8B1)	XP_011524326.1:p.Ala889=