Canonical Allele Identifier: CA401082195

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75978553C>A , CM000679.2:g.75978553C>A	GRCh38
NC_000017.10:g.73974634C>A , CM000679.1:g.73974634C>A	GRCh37
NC_000017.9:g.71486229C>A	NCBI36
NG_008190.1:g.5811G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.250G>T MANE Select	NP_004026.2:p.Glu84Ter
ENST00000293217.10:c.250G>T MANE Select	ENSP00000293217.4:p.Glu84Ter
NM_001185039.1:c.136G>T	NP_001171968.1:p.Glu46Ter
NM_001185039.2:c.136G>T	NP_001171968.1:p.Glu46Ter
NM_004035.6:c.250G>T	NP_004026.2:p.Glu84Ter
NM_007292.5:c.250G>T	NP_009223.2:p.Glu84Ter
NM_007292.6:c.250G>T	NP_009223.2:p.Glu84Ter
ENST00000293217.9:c.250G>T	ENSP00000293217.4:p.Glu84Ter
ENST00000301608.8:c.250G>T	ENSP00000301608.4:p.Glu84Ter
ENST00000301608.9:c.250G>T	ENSP00000301608.4:p.Glu84Ter
ENST00000572047.5:c.424G>T	ENSP00000459936.1:n.424G>T
ENST00000573078.5:c.250G>T	ENSP00000458325.1:p.Glu84Ter
ENST00000576743.1:c.141G>T
ENST00000588176.5:c.250G>T	ENSP00000466210.1:p.Glu84Ter
ENST00000589301.1:c.*208G>T	ENSP00000468435.1:n.*208G>T
ENST00000591857.5:n.268G>T
ENST00000592329.1:n.222G>T
XM_011524868.1:c.-116G>T	XP_011523170.1:n.-116G>T
XM_011524868.3:c.-116G>T	XP_011523170.1:n.-116G>T
XM_011524869.1:c.3G>T	XP_011523171.1:p.Met1Ile
XM_011524869.3:c.3G>T	XP_011523171.1:p.Met1Ile