Canonical Allele Identifier: CA401059912

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75949277C>G , CM000679.2:g.75949277C>G	GRCh38
NC_000017.10:g.73945358C>G , CM000679.1:g.73945358C>G	GRCh37
NC_000017.9:g.71456953C>G	NCBI36
NG_008190.1:g.35087G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.1668G>C MANE Select	NP_004026.2:p.Arg556Ser
ENST00000293217.10:c.1668G>C MANE Select	ENSP00000293217.4:p.Arg556Ser
NM_001185039.1:c.1554G>C	NP_001171968.1:p.Arg518Ser
NM_001185039.2:c.1554G>C	NP_001171968.1:p.Arg518Ser
NM_004035.6:c.1668G>C	NP_004026.2:p.Arg556Ser
NM_007292.5:c.1668G>C	NP_009223.2:p.Arg556Ser
NM_007292.6:c.1668G>C	NP_009223.2:p.Arg556Ser
ENST00000293217.9:c.1668G>C	ENSP00000293217.4:p.Arg556Ser
ENST00000301608.8:c.1668G>C	ENSP00000301608.4:p.Arg556Ser
ENST00000301608.9:c.1668G>C	ENSP00000301608.4:p.Arg556Ser
ENST00000572047.5:c.1842G>C	ENSP00000459936.1:n.1842G>C
ENST00000573078.5:c.*1157G>C	ENSP00000458325.1:n.*1157G>C
ENST00000587927.5:c.83G>C
ENST00000588968.5:c.122G>C
XM_011524868.1:c.1464G>C	XP_011523170.1:p.Arg488Ser
XM_011524868.3:c.1464G>C	XP_011523170.1:p.Arg488Ser
XM_011524869.1:c.1260G>C	XP_011523171.1:p.Arg420Ser
XM_011524869.3:c.1260G>C	XP_011523171.1:p.Arg420Ser