Canonical Allele Identifier: CA401065181

Gene: ACOX1

Linked Data

• MyVariant Identifiers: chr17:g.73949551G>C (hg19) ; chr17:g.75953470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953470G>C , CM000679.2:g.75953470G>C	GRCh38
NC_000017.10:g.73949551G>C , CM000679.1:g.73949551G>C	GRCh37
NC_000017.9:g.71461146G>C	NCBI36
NG_008190.1:g.30894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.925C>G	ENSP00000301608.4:p.Gln309Glu
ENST00000293217.10:c.925C>G MANE Select	ENSP00000293217.4:p.Gln309Glu
ENST00000293217.9:c.925C>G	ENSP00000293217.4:p.Gln309Glu
ENST00000301608.8:c.925C>G	ENSP00000301608.4:p.Gln309Glu
ENST00000572047.5:c.1099C>G	ENSP00000459936.1:n.1099C>G
ENST00000573078.5:c.*414C>G	ENSP00000458325.1:n.*414C>G
ENST00000589744.1:n.175C>G
NM_001185039.1:c.811C>G	NP_001171968.1:p.Gln271Glu
NM_004035.6:c.925C>G	NP_004026.2:p.Gln309Glu
NM_007292.5:c.925C>G	NP_009223.2:p.Gln309Glu
XM_011524868.1:c.721C>G	XP_011523170.1:p.Gln241Glu
XM_011524869.1:c.517C>G	XP_011523171.1:p.Gln173Glu
XM_011524868.3:c.721C>G	XP_011523170.1:p.Gln241Glu
XM_011524869.3:c.517C>G	XP_011523171.1:p.Gln173Glu
NM_004035.7:c.925C>G MANE Select	NP_004026.2:p.Gln309Glu
NM_001185039.2:c.811C>G	NP_001171968.1:p.Gln271Glu
NM_007292.6:c.925C>G	NP_009223.2:p.Gln309Glu