Canonical Allele Identifier: CA401081989
Community Standard Title: NM_004035.7(ACOX1):c.260G>A (p.Trp87Ter)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75978543C>T , CM000679.2:g.75978543C>T GRCh38
NC_000017.10:g.73974624C>T , CM000679.1:g.73974624C>T GRCh37
NC_000017.9:g.71486219C>T NCBI36
NG_008190.1:g.5821G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.260G>A MANE Select NP_004026.2:p.Trp87Ter
ENST00000293217.10:c.260G>A MANE Select ENSP00000293217.4:p.Trp87Ter
NM_001185039.1:c.146G>A NP_001171968.1:p.Trp49Ter
NM_001185039.2:c.146G>A NP_001171968.1:p.Trp49Ter
NM_004035.6:c.260G>A NP_004026.2:p.Trp87Ter
NM_007292.5:c.260G>A NP_009223.2:p.Trp87Ter
NM_007292.6:c.260G>A NP_009223.2:p.Trp87Ter
ENST00000293217.9:c.260G>A ENSP00000293217.4:p.Trp87Ter
ENST00000301608.8:c.260G>A ENSP00000301608.4:p.Trp87Ter
ENST00000301608.9:c.260G>A ENSP00000301608.4:p.Trp87Ter
ENST00000572047.5:c.434G>A ENSP00000459936.1:n.434G>A
ENST00000573078.5:c.260G>A ENSP00000458325.1:p.Trp87Ter
ENST00000576743.1:c.151G>A
ENST00000588176.5:c.260G>A ENSP00000466210.1:p.Trp87Ter
ENST00000589301.1:c.*218G>A ENSP00000468435.1:n.*218G>A
ENST00000591857.5:n.278G>A
ENST00000592329.1:n.232G>A
XM_011524868.1:c.-106G>A XP_011523170.1:n.-106G>A
XM_011524868.3:c.-106G>A XP_011523170.1:n.-106G>A
XM_011524869.1:c.13G>A XP_011523171.1:p.Gly5Ser
XM_011524869.3:c.13G>A XP_011523171.1:p.Gly5Ser