Canonical Allele Identifier: CA8776897
Community Standard Title: NM_004035.7(ACOX1):c.904C>T (p.Arg302Ter)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75953491G>A , CM000679.2:g.75953491G>A GRCh38
NC_000017.10:g.73949572G>A , CM000679.1:g.73949572G>A GRCh37
NC_000017.9:g.71461167G>A NCBI36
NG_008190.1:g.30873C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.904C>T MANE Select NP_004026.2:p.Arg302Ter
ENST00000293217.10:c.904C>T MANE Select ENSP00000293217.4:p.Arg302Ter
NM_001185039.1:c.790C>T NP_001171968.1:p.Arg264Ter
NM_001185039.2:c.790C>T NP_001171968.1:p.Arg264Ter
NM_004035.6:c.904C>T NP_004026.2:p.Arg302Ter
NM_007292.5:c.904C>T NP_009223.2:p.Arg302Ter
NM_007292.6:c.904C>T NP_009223.2:p.Arg302Ter
ENST00000293217.9:c.904C>T ENSP00000293217.4:p.Arg302Ter
ENST00000301608.8:c.904C>T ENSP00000301608.4:p.Arg302Ter
ENST00000301608.9:c.904C>T ENSP00000301608.4:p.Arg302Ter
ENST00000572047.5:c.1078C>T ENSP00000459936.1:n.1078C>T
ENST00000573078.5:c.*393C>T ENSP00000458325.1:n.*393C>T
ENST00000589744.1:n.154C>T
XM_011524868.1:c.700C>T XP_011523170.1:p.Arg234Ter
XM_011524868.3:c.700C>T XP_011523170.1:p.Arg234Ter
XM_011524869.1:c.496C>T XP_011523171.1:p.Arg166Ter
XM_011524869.3:c.496C>T XP_011523171.1:p.Arg166Ter