Canonical Allele Identifier: CA115027

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75957465C>A , CM000679.2:g.75957465C>A	GRCh38
NC_000017.10:g.73953546C>A , CM000679.1:g.73953546C>A	GRCh37
NC_000017.9:g.71465141C>A	NCBI36
NG_008190.1:g.26899G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.532G>T MANE Select	NP_004026.2:p.Gly178Cys
ENST00000293217.10:c.532G>T MANE Select	ENSP00000293217.4:p.Gly178Cys
NM_001185039.1:c.418G>T	NP_001171968.1:p.Gly140Cys
NM_001185039.2:c.418G>T	NP_001171968.1:p.Gly140Cys
NM_004035.6:c.532G>T	NP_004026.2:p.Gly178Cys
NM_007292.5:c.532G>T	NP_009223.2:p.Gly178Cys
NM_007292.6:c.532G>T	NP_009223.2:p.Gly178Cys
ENST00000293217.9:c.532G>T	ENSP00000293217.4:p.Gly178Cys
ENST00000301608.8:c.532G>T	ENSP00000301608.4:p.Gly178Cys
ENST00000301608.9:c.532G>T	ENSP00000301608.4:p.Gly178Cys
ENST00000572047.5:c.706G>T	ENSP00000459936.1:n.706G>T
ENST00000573078.5:c.*21G>T	ENSP00000458325.1:n.*21G>T
ENST00000588176.5:c.431-1518G>T	ENSP00000466210.1:n.431-1518G>T
ENST00000591857.5:n.550G>T
XM_011524868.1:c.328G>T	XP_011523170.1:p.Gly110Cys
XM_011524868.3:c.328G>T	XP_011523170.1:p.Gly110Cys
XM_011524869.1:c.124G>T	XP_011523171.1:p.Gly42Cys
XM_011524869.3:c.124G>T	XP_011523171.1:p.Gly42Cys