Canonical Allele Identifier: CA8974856

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57701320G>A , CM000680.2:g.57701320G>A	GRCh38
NC_000018.9:g.55368552G>A , CM000680.1:g.55368552G>A	GRCh37
NC_000018.8:g.53519550G>A	NCBI36
NG_007148.2:g.106776C>T
NG_007148.3:g.107503C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001374385.1:c.394-7C>T MANE Select	NP_001361314.1:n.394-7C>T
ENST00000648908.2:c.394-7C>T MANE Select	ENSP00000497896.1:n.394-7C>T
NM_001374386.1:c.244-7C>T	NP_001361315.1:n.244-7C>T
NM_005603.4:c.394-7C>T	NP_005594.1:n.394-7C>T
NM_005603.6:c.394-7C>T	NP_005594.2:n.394-7C>T
ENST00000283684.8:c.394-7C>T	ENSP00000283684.4:n.394-7C>T
ENST00000536015.5:c.394-7C>T	ENSP00000445359.1:n.394-7C>T
ENST00000589147.5:n.288-7C>T
ENST00000591728.1:c.*110-7C>T	ENSP00000467767.1:n.*110-7C>T
ENST00000642462.1:c.394-7C>T	ENSP00000494712.1:n.394-7C>T
ENST00000648039.1:c.394-7C>T	ENSP00000497863.1:n.394-7C>T
ENST00000648467.1:c.227-7C>T
XM_006722481.2:c.394-7C>T	XP_006722544.1:n.394-7C>T
XM_006722481.4:c.394-7C>T	XP_006722544.1:n.394-7C>T
XM_011526020.1:c.394-7C>T	XP_011524322.1:n.394-7C>T
XM_011526021.1:c.394-7C>T	XP_011524323.1:n.394-7C>T
XM_011526022.1:c.394-7C>T	XP_011524324.1:n.394-7C>T
XM_011526023.1:c.280-7C>T	XP_011524325.1:n.280-7C>T
XM_011526023.3:c.280-7C>T	XP_011524325.1:n.280-7C>T
XM_011526024.1:c.-167+3235C>T	XP_011524326.1:n.-167+3235C>T
XR_935525.1:n.123+5284G>A
XR_935526.1:n.123+5284G>A