Canonical Allele Identifier: CA401071180

Gene: ACOX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75960248T>G , CM000679.2:g.75960248T>G	GRCh38
NC_000017.10:g.73956329T>G , CM000679.1:g.73956329T>G	GRCh37
NC_000017.9:g.71467924T>G	NCBI36
NG_008190.1:g.24116A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.431-2682A>C	ENSP00000301608.4:n.431-2682A>C
ENST00000293217.10:c.397A>C MANE Select	ENSP00000293217.4:p.Ile133Leu
ENST00000293217.9:c.397A>C	ENSP00000293217.4:p.Ile133Leu
ENST00000301608.8:c.431-2682A>C	ENSP00000301608.4:n.431-2682A>C
ENST00000572047.5:c.571A>C	ENSP00000459936.1:n.571A>C
ENST00000573078.5:c.558A>C	ENSP00000458325.1:p.Ser186=
ENST00000588176.5:c.431-4301A>C	ENSP00000466210.1:n.431-4301A>C
ENST00000589301.1:c.*228-2682A>C	ENSP00000468435.1:n.*228-2682A>C
ENST00000591857.5:n.415A>C
NM_001185039.1:c.283A>C	NP_001171968.1:p.Ile95Leu
NM_004035.6:c.397A>C	NP_004026.2:p.Ile133Leu
NM_007292.5:c.431-2682A>C	NP_009223.2:n.431-2682A>C
XM_011524868.1:c.193A>C	XP_011523170.1:p.Ile65Leu
XM_011524869.1:c.23-2682A>C	XP_011523171.1:n.23-2682A>C
XM_011524868.3:c.193A>C	XP_011523170.1:p.Ile65Leu
XM_011524869.3:c.23-2682A>C	XP_011523171.1:n.23-2682A>C
NM_004035.7:c.397A>C MANE Select	NP_004026.2:p.Ile133Leu
NM_001185039.2:c.283A>C	NP_001171968.1:p.Ile95Leu
NM_007292.6:c.431-2682A>C	NP_009223.2:n.431-2682A>C