Canonical Allele Identifier: CA8973977

Gene: ATP8B1 ATP8B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57648727G>A , CM000680.2:g.57648727G>A	GRCh38
NC_000018.9:g.55315959G>A , CM000680.1:g.55315959G>A	GRCh37
NC_000018.8:g.53466957G>A	NCBI36
NG_007148.2:g.159369C>T
NG_007148.3:g.160096C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001374385.1:c.3532-15C>T (ATP8B1) MANE Select	NP_001361314.1:n.3532-15C>T
ENST00000648908.2:c.3532-15C>T (ATP8B1) MANE Select	ENSP00000497896.1:n.3532-15C>T
NM_001242804.1:c.139+6675G>A (ATP8B1-AS1)	NP_001229733.1:n.139+6675G>A
NM_001374386.1:c.3382-15C>T (ATP8B1)	NP_001361315.1:n.3382-15C>T
NM_005603.4:c.3532-15C>T (ATP8B1)	NP_005594.1:n.3532-15C>T
NM_005603.6:c.3532-15C>T (ATP8B1)	NP_005594.2:n.3532-15C>T
NR_164148.1:n.682+6675G>A (ATP8B1-AS1)
ENST00000283684.8:c.3532-15C>T (ATP8B1)	ENSP00000283684.4:n.3532-15C>T
ENST00000536015.5:c.3532-15C>T (ATP8B1)	ENSP00000445359.1:n.3532-15C>T
ENST00000642462.1:c.*764-15C>T (ATP8B1)	ENSP00000494712.1:n.*764-15C>T
ENST00000648039.1:c.*764-15C>T (ATP8B1)	ENSP00000497863.1:n.*764-15C>T
XM_006722481.2:c.3532-15C>T (ATP8B1)	XP_006722544.1:n.3532-15C>T
XM_006722481.4:c.3532-15C>T (ATP8B1)	XP_006722544.1:n.3532-15C>T
XM_011526020.1:c.3532-15C>T (ATP8B1)	XP_011524322.1:n.3532-15C>T
XM_011526021.1:c.3532-15C>T (ATP8B1)	XP_011524323.1:n.3532-15C>T
XM_011526022.1:c.3532-15C>T (ATP8B1)	XP_011524324.1:n.3532-15C>T
XM_011526023.1:c.3418-15C>T (ATP8B1)	XP_011524325.1:n.3418-15C>T
XM_011526023.3:c.3418-15C>T (ATP8B1)	XP_011524325.1:n.3418-15C>T
XM_011526024.1:c.2812-15C>T (ATP8B1)	XP_011524326.1:n.2812-15C>T