Canonical Allele Identifier: CA402539329

Gene: ATP8B1 ATP8B1-AS1

Linked Data

• MyVariant Identifiers: chr18:g.55315752T>A (hg19) ; chr18:g.57648520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57648520T>A , CM000680.2:g.57648520T>A	GRCh38
NC_000018.9:g.55315752T>A , CM000680.1:g.55315752T>A	GRCh37
NC_000018.8:g.53466750T>A	NCBI36
NG_007148.2:g.159576A>T
NG_007148.3:g.160303A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.*956A>T (ATP8B1)	ENSP00000494712.1:n.*956A>T
ENST00000648039.1:c.*956A>T (ATP8B1)	ENSP00000497863.1:n.*956A>T
ENST00000648908.2:c.3724A>T (ATP8B1) MANE Select	ENSP00000497896.1:p.Thr1242Ser
ENST00000283684.8:c.3724A>T (ATP8B1)	ENSP00000283684.4:p.Thr1242Ser
ENST00000536015.5:c.3724A>T (ATP8B1)	ENSP00000445359.1:p.Thr1242Ser
NM_001242804.1:c.139+6468T>A (ATP8B1-AS1)	NP_001229733.1:n.139+6468T>A
NM_005603.4:c.3724A>T (ATP8B1)	NP_005594.1:p.Thr1242Ser
XM_006722481.2:c.3724A>T (ATP8B1)	XP_006722544.1:p.Thr1242Ser
XM_011526020.1:c.3724A>T (ATP8B1)	XP_011524322.1:p.Thr1242Ser
XM_011526021.1:c.3724A>T (ATP8B1)	XP_011524323.1:p.Thr1242Ser
XM_011526022.1:c.3724A>T (ATP8B1)	XP_011524324.1:p.Thr1242Ser
XM_011526023.1:c.3610A>T (ATP8B1)	XP_011524325.1:p.Thr1204Ser
XM_011526024.1:c.3004A>T (ATP8B1)	XP_011524326.1:p.Thr1002Ser
NM_005603.6:c.3724A>T (ATP8B1)	NP_005594.2:p.Thr1242Ser
XM_006722481.4:c.3724A>T (ATP8B1)	XP_006722544.1:p.Thr1242Ser
XM_011526023.3:c.3610A>T (ATP8B1)	XP_011524325.1:p.Thr1204Ser
NM_001374385.1:c.3724A>T (ATP8B1) MANE Select	NP_001361314.1:p.Thr1242Ser
NM_001374386.1:c.3574A>T (ATP8B1)	NP_001361315.1:p.Thr1192Ser
NR_164148.1:n.682+6468T>A (ATP8B1-AS1)