Canonical Allele Identifier: CA401071125

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75960241G>C , CM000679.2:g.75960241G>C	GRCh38
NC_000017.10:g.73956322G>C , CM000679.1:g.73956322G>C	GRCh37
NC_000017.9:g.71467917G>C	NCBI36
NG_008190.1:g.24123C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.404C>G MANE Select	NP_004026.2:p.Thr135Ser
ENST00000293217.10:c.404C>G MANE Select	ENSP00000293217.4:p.Thr135Ser
NM_001185039.1:c.290C>G	NP_001171968.1:p.Thr97Ser
NM_001185039.2:c.290C>G	NP_001171968.1:p.Thr97Ser
NM_004035.6:c.404C>G	NP_004026.2:p.Thr135Ser
NM_007292.5:c.431-2675C>G	NP_009223.2:n.431-2675C>G
NM_007292.6:c.431-2675C>G	NP_009223.2:n.431-2675C>G
ENST00000293217.9:c.404C>G	ENSP00000293217.4:p.Thr135Ser
ENST00000301608.8:c.431-2675C>G	ENSP00000301608.4:n.431-2675C>G
ENST00000301608.9:c.431-2675C>G	ENSP00000301608.4:n.431-2675C>G
ENST00000572047.5:c.578C>G	ENSP00000459936.1:n.578C>G
ENST00000573078.5:c.565C>G	ENSP00000458325.1:p.Leu189Val
ENST00000588176.5:c.431-4294C>G	ENSP00000466210.1:n.431-4294C>G
ENST00000589301.1:c.*228-2675C>G	ENSP00000468435.1:n.*228-2675C>G
ENST00000591857.5:n.422C>G
XM_011524868.1:c.200C>G	XP_011523170.1:p.Thr67Ser
XM_011524868.3:c.200C>G	XP_011523170.1:p.Thr67Ser
XM_011524869.1:c.23-2675C>G	XP_011523171.1:n.23-2675C>G
XM_011524869.3:c.23-2675C>G	XP_011523171.1:n.23-2675C>G