Canonical Allele Identifier: CA8776982
Community Standard Title: NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75955912G>T , CM000679.2:g.75955912G>T GRCh38
NC_000017.10:g.73951993G>T , CM000679.1:g.73951993G>T GRCh37
NC_000017.9:g.71463588G>T NCBI36
NG_008190.1:g.28452C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.574C>A MANE Select NP_004026.2:p.Gln192Lys
ENST00000293217.10:c.574C>A MANE Select ENSP00000293217.4:p.Gln192Lys
NM_001185039.1:c.460C>A NP_001171968.1:p.Gln154Lys
NM_001185039.2:c.460C>A NP_001171968.1:p.Gln154Lys
NM_004035.6:c.574C>A NP_004026.2:p.Gln192Lys
NM_007292.5:c.574C>A NP_009223.2:p.Gln192Lys
NM_007292.6:c.574C>A NP_009223.2:p.Gln192Lys
ENST00000293217.9:c.574C>A ENSP00000293217.4:p.Gln192Lys
ENST00000301608.8:c.574C>A ENSP00000301608.4:p.Gln192Lys
ENST00000301608.9:c.574C>A ENSP00000301608.4:p.Gln192Lys
ENST00000572047.5:c.748C>A ENSP00000459936.1:n.748C>A
ENST00000573078.5:c.*63C>A ENSP00000458325.1:n.*63C>A
ENST00000588176.5:c.466C>A ENSP00000466210.1:p.Gln156Lys
ENST00000591857.5:n.630C>A
XM_011524868.1:c.370C>A XP_011523170.1:p.Gln124Lys
XM_011524868.3:c.370C>A XP_011523170.1:p.Gln124Lys
XM_011524869.1:c.166C>A XP_011523171.1:p.Gln56Lys
XM_011524869.3:c.166C>A XP_011523171.1:p.Gln56Lys