Canonical Allele Identifier: CA401083803

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75978664G>A , CM000679.2:g.75978664G>A	GRCh38
NC_000017.10:g.73974745G>A , CM000679.1:g.73974745G>A	GRCh37
NC_000017.9:g.71486340G>A	NCBI36
NG_008190.1:g.5700C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.139C>T MANE Select	NP_004026.2:p.Gln47Ter
ENST00000293217.10:c.139C>T MANE Select	ENSP00000293217.4:p.Gln47Ter
NM_001185039.1:c.25C>T	NP_001171968.1:p.Gln9Ter
NM_001185039.2:c.25C>T	NP_001171968.1:p.Gln9Ter
NM_004035.6:c.139C>T	NP_004026.2:p.Gln47Ter
NM_007292.5:c.139C>T	NP_009223.2:p.Gln47Ter
NM_007292.6:c.139C>T	NP_009223.2:p.Gln47Ter
ENST00000293217.9:c.139C>T	ENSP00000293217.4:p.Gln47Ter
ENST00000301608.8:c.139C>T	ENSP00000301608.4:p.Gln47Ter
ENST00000301608.9:c.139C>T	ENSP00000301608.4:p.Gln47Ter
ENST00000572047.5:c.313C>T	ENSP00000459936.1:n.313C>T
ENST00000573078.5:c.139C>T	ENSP00000458325.1:p.Gln47Ter
ENST00000576743.1:c.30C>T
ENST00000588176.5:c.139C>T	ENSP00000466210.1:p.Gln47Ter
ENST00000589301.1:c.*97C>T	ENSP00000468435.1:n.*97C>T
ENST00000591857.5:n.157C>T
ENST00000592329.1:n.111C>T
XM_011524868.1:c.-227C>T	XP_011523170.1:n.-227C>T
XM_011524868.3:c.-227C>T	XP_011523170.1:n.-227C>T
XM_011524869.1:c.-109C>T	XP_011523171.1:n.-109C>T
XM_011524869.3:c.-109C>T	XP_011523171.1:n.-109C>T