Canonical Allele Identifier: CA401071202

Gene: ACOX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75960250A>T , CM000679.2:g.75960250A>T	GRCh38
NC_000017.10:g.73956331A>T , CM000679.1:g.73956331A>T	GRCh37
NC_000017.9:g.71467926A>T	NCBI36
NG_008190.1:g.24114T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.431-2684T>A	ENSP00000301608.4:n.431-2684T>A
ENST00000293217.10:c.395T>A MANE Select	ENSP00000293217.4:p.Ile132Asn
ENST00000293217.9:c.395T>A	ENSP00000293217.4:p.Ile132Asn
ENST00000301608.8:c.431-2684T>A	ENSP00000301608.4:n.431-2684T>A
ENST00000572047.5:c.569T>A	ENSP00000459936.1:n.569T>A
ENST00000573078.5:c.556T>A	ENSP00000458325.1:p.Ser186Thr
ENST00000588176.5:c.431-4303T>A	ENSP00000466210.1:n.431-4303T>A
ENST00000589301.1:c.*228-2684T>A	ENSP00000468435.1:n.*228-2684T>A
ENST00000591857.5:n.413T>A
NM_001185039.1:c.281T>A	NP_001171968.1:p.Ile94Asn
NM_004035.6:c.395T>A	NP_004026.2:p.Ile132Asn
NM_007292.5:c.431-2684T>A	NP_009223.2:n.431-2684T>A
XM_011524868.1:c.191T>A	XP_011523170.1:p.Ile64Asn
XM_011524869.1:c.23-2684T>A	XP_011523171.1:n.23-2684T>A
XM_011524868.3:c.191T>A	XP_011523170.1:p.Ile64Asn
XM_011524869.3:c.23-2684T>A	XP_011523171.1:n.23-2684T>A
NM_004035.7:c.395T>A MANE Select	NP_004026.2:p.Ile132Asn
NM_001185039.2:c.281T>A	NP_001171968.1:p.Ile94Asn
NM_007292.6:c.431-2684T>A	NP_009223.2:n.431-2684T>A