Canonical Allele Identifier: CA401071196

Gene: ACOX1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.395T>G MANE Select	NP_004026.2:p.Ile132Ser
ENST00000293217.10:c.395T>G MANE Select	ENSP00000293217.4:p.Ile132Ser
NM_001185039.1:c.281T>G	NP_001171968.1:p.Ile94Ser
NM_001185039.2:c.281T>G	NP_001171968.1:p.Ile94Ser
NM_004035.6:c.395T>G	NP_004026.2:p.Ile132Ser
NM_007292.5:c.431-2684T>G	NP_009223.2:n.431-2684T>G
NM_007292.6:c.431-2684T>G	NP_009223.2:n.431-2684T>G
ENST00000293217.9:c.395T>G	ENSP00000293217.4:p.Ile132Ser
ENST00000301608.8:c.431-2684T>G	ENSP00000301608.4:n.431-2684T>G
ENST00000301608.9:c.431-2684T>G	ENSP00000301608.4:n.431-2684T>G
ENST00000572047.5:c.569T>G	ENSP00000459936.1:n.569T>G
ENST00000573078.5:c.556T>G	ENSP00000458325.1:p.Ser186Ala
ENST00000588176.5:c.431-4303T>G	ENSP00000466210.1:n.431-4303T>G
ENST00000589301.1:c.*228-2684T>G	ENSP00000468435.1:n.*228-2684T>G
ENST00000591857.5:n.413T>G
XM_011524868.1:c.191T>G	XP_011523170.1:p.Ile64Ser
XM_011524868.3:c.191T>G	XP_011523170.1:p.Ile64Ser
XM_011524869.1:c.23-2684T>G	XP_011523171.1:n.23-2684T>G
XM_011524869.3:c.23-2684T>G	XP_011523171.1:n.23-2684T>G