Canonical Allele Identifier: CA401071262

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75960255C>A , CM000679.2:g.75960255C>A	GRCh38
NC_000017.10:g.73956336C>A , CM000679.1:g.73956336C>A	GRCh37
NC_000017.9:g.71467931C>A	NCBI36
NG_008190.1:g.24109G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.390G>T MANE Select	NP_004026.2:p.Leu130Phe
ENST00000293217.10:c.390G>T MANE Select	ENSP00000293217.4:p.Leu130Phe
NM_001185039.1:c.276G>T	NP_001171968.1:p.Leu92Phe
NM_001185039.2:c.276G>T	NP_001171968.1:p.Leu92Phe
NM_004035.6:c.390G>T	NP_004026.2:p.Leu130Phe
NM_007292.5:c.431-2689G>T	NP_009223.2:n.431-2689G>T
NM_007292.6:c.431-2689G>T	NP_009223.2:n.431-2689G>T
ENST00000293217.9:c.390G>T	ENSP00000293217.4:p.Leu130Phe
ENST00000301608.8:c.431-2689G>T	ENSP00000301608.4:n.431-2689G>T
ENST00000301608.9:c.431-2689G>T	ENSP00000301608.4:n.431-2689G>T
ENST00000572047.5:c.564G>T	ENSP00000459936.1:n.564G>T
ENST00000573078.5:c.551G>T	ENSP00000458325.1:p.Trp184Leu
ENST00000588176.5:c.431-4308G>T	ENSP00000466210.1:n.431-4308G>T
ENST00000589301.1:c.*228-2689G>T	ENSP00000468435.1:n.*228-2689G>T
ENST00000591857.5:n.408G>T
XM_011524868.1:c.186G>T	XP_011523170.1:p.Leu62Phe
XM_011524868.3:c.186G>T	XP_011523170.1:p.Leu62Phe
XM_011524869.1:c.23-2689G>T	XP_011523171.1:n.23-2689G>T
XM_011524869.3:c.23-2689G>T	XP_011523171.1:n.23-2689G>T