Canonical Allele Identifier: CA401071135

Gene: ACOX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75960242T>G , CM000679.2:g.75960242T>G	GRCh38
NC_000017.10:g.73956323T>G , CM000679.1:g.73956323T>G	GRCh37
NC_000017.9:g.71467918T>G	NCBI36
NG_008190.1:g.24122A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.431-2676A>C	ENSP00000301608.4:n.431-2676A>C
ENST00000293217.10:c.403A>C MANE Select	ENSP00000293217.4:p.Thr135Pro
ENST00000293217.9:c.403A>C	ENSP00000293217.4:p.Thr135Pro
ENST00000301608.8:c.431-2676A>C	ENSP00000301608.4:n.431-2676A>C
ENST00000572047.5:c.577A>C	ENSP00000459936.1:n.577A>C
ENST00000573078.5:c.564A>C	ENSP00000458325.1:p.Ala188=
ENST00000588176.5:c.431-4295A>C	ENSP00000466210.1:n.431-4295A>C
ENST00000589301.1:c.*228-2676A>C	ENSP00000468435.1:n.*228-2676A>C
ENST00000591857.5:n.421A>C
NM_001185039.1:c.289A>C	NP_001171968.1:p.Thr97Pro
NM_004035.6:c.403A>C	NP_004026.2:p.Thr135Pro
NM_007292.5:c.431-2676A>C	NP_009223.2:n.431-2676A>C
XM_011524868.1:c.199A>C	XP_011523170.1:p.Thr67Pro
XM_011524869.1:c.23-2676A>C	XP_011523171.1:n.23-2676A>C
XM_011524868.3:c.199A>C	XP_011523170.1:p.Thr67Pro
XM_011524869.3:c.23-2676A>C	XP_011523171.1:n.23-2676A>C
NM_004035.7:c.403A>C MANE Select	NP_004026.2:p.Thr135Pro
NM_001185039.2:c.289A>C	NP_001171968.1:p.Thr97Pro
NM_007292.6:c.431-2676A>C	NP_009223.2:n.431-2676A>C