Canonical Allele Identifier: CA8776893
Gene: ACOX1 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75953474C>T , CM000679.2:g.75953474C>T GRCh38
NC_000017.10:g.73949555C>T , CM000679.1:g.73949555C>T GRCh37
NC_000017.9:g.71461150C>T NCBI36
NG_008190.1:g.30890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301608.9:c.921G>A ENSP00000301608.4:p.Arg307=
ENST00000293217.10:c.921G>A MANE Select ENSP00000293217.4:p.Arg307=
ENST00000293217.9:c.921G>A ENSP00000293217.4:p.Arg307=
ENST00000301608.8:c.921G>A ENSP00000301608.4:p.Arg307=
ENST00000572047.5:c.1095G>A ENSP00000459936.1:n.1095G>A
ENST00000573078.5:c.*410G>A ENSP00000458325.1:n.*410G>A
ENST00000589744.1:n.171G>A
NM_001185039.1:c.807G>A NP_001171968.1:p.Arg269=
NM_004035.6:c.921G>A NP_004026.2:p.Arg307=
NM_007292.5:c.921G>A NP_009223.2:p.Arg307=
XM_011524868.1:c.717G>A XP_011523170.1:p.Arg239=
XM_011524869.1:c.513G>A XP_011523171.1:p.Arg171=
XM_011524868.3:c.717G>A XP_011523170.1:p.Arg239=
XM_011524869.3:c.513G>A XP_011523171.1:p.Arg171=
NM_004035.7:c.921G>A MANE Select NP_004026.2:p.Arg307=
NM_001185039.2:c.807G>A NP_001171968.1:p.Arg269=
NM_007292.6:c.921G>A NP_009223.2:p.Arg307=