Canonical Allele Identifier: CA8776849

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75951421C>T , CM000679.2:g.75951421C>T	GRCh38
NC_000017.10:g.73947502C>T , CM000679.1:g.73947502C>T	GRCh37
NC_000017.9:g.71459097C>T	NCBI36
NG_008190.1:g.32943G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.1101G>A MANE Select	NP_004026.2:p.Leu367=
ENST00000293217.10:c.1101G>A MANE Select	ENSP00000293217.4:p.Leu367=
NM_001185039.1:c.987G>A	NP_001171968.1:p.Leu329=
NM_001185039.2:c.987G>A	NP_001171968.1:p.Leu329=
NM_004035.6:c.1101G>A	NP_004026.2:p.Leu367=
NM_007292.5:c.1101G>A	NP_009223.2:p.Leu367=
NM_007292.6:c.1101G>A	NP_009223.2:p.Leu367=
ENST00000293217.9:c.1101G>A	ENSP00000293217.4:p.Leu367=
ENST00000301608.8:c.1101G>A	ENSP00000301608.4:p.Leu367=
ENST00000301608.9:c.1101G>A	ENSP00000301608.4:p.Leu367=
ENST00000572047.5:c.1275G>A	ENSP00000459936.1:n.1275G>A
ENST00000573078.5:c.*590G>A	ENSP00000458325.1:n.*590G>A
XM_011524868.1:c.897G>A	XP_011523170.1:p.Leu299=
XM_011524868.3:c.897G>A	XP_011523170.1:p.Leu299=
XM_011524869.1:c.693G>A	XP_011523171.1:p.Leu231=
XM_011524869.3:c.693G>A	XP_011523171.1:p.Leu231=