Canonical Allele Identifier: CA401071144
Community Standard Title: NM_004035.7(ACOX1):c.401G>A (p.Gly134Asp)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75960244C>T , CM000679.2:g.75960244C>T GRCh38
NC_000017.10:g.73956325C>T , CM000679.1:g.73956325C>T GRCh37
NC_000017.9:g.71467920C>T NCBI36
NG_008190.1:g.24120G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.401G>A MANE Select NP_004026.2:p.Gly134Asp
ENST00000293217.10:c.401G>A MANE Select ENSP00000293217.4:p.Gly134Asp
NM_001185039.1:c.287G>A NP_001171968.1:p.Gly96Asp
NM_001185039.2:c.287G>A NP_001171968.1:p.Gly96Asp
NM_004035.6:c.401G>A NP_004026.2:p.Gly134Asp
NM_007292.5:c.431-2678G>A NP_009223.2:n.431-2678G>A
NM_007292.6:c.431-2678G>A NP_009223.2:n.431-2678G>A
ENST00000293217.9:c.401G>A ENSP00000293217.4:p.Gly134Asp
ENST00000301608.8:c.431-2678G>A ENSP00000301608.4:n.431-2678G>A
ENST00000301608.9:c.431-2678G>A ENSP00000301608.4:n.431-2678G>A
ENST00000572047.5:c.575G>A ENSP00000459936.1:n.575G>A
ENST00000573078.5:c.562G>A ENSP00000458325.1:p.Ala188Thr
ENST00000588176.5:c.431-4297G>A ENSP00000466210.1:n.431-4297G>A
ENST00000589301.1:c.*228-2678G>A ENSP00000468435.1:n.*228-2678G>A
ENST00000591857.5:n.419G>A
XM_011524868.1:c.197G>A XP_011523170.1:p.Gly66Asp
XM_011524868.3:c.197G>A XP_011523170.1:p.Gly66Asp
XM_011524869.1:c.23-2678G>A XP_011523171.1:n.23-2678G>A
XM_011524869.3:c.23-2678G>A XP_011523171.1:n.23-2678G>A