Canonical Allele Identifier: CA401069254
Community Standard Title: NM_004035.7(ACOX1):c.468T>A (p.Tyr156Ter)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75957529A>T , CM000679.2:g.75957529A>T GRCh38
NC_000017.10:g.73953610A>T , CM000679.1:g.73953610A>T GRCh37
NC_000017.9:g.71465205A>T NCBI36
NG_008190.1:g.26835T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.468T>A MANE Select NP_004026.2:p.Tyr156Ter
ENST00000293217.10:c.468T>A MANE Select ENSP00000293217.4:p.Tyr156Ter
NM_001185039.1:c.354T>A NP_001171968.1:p.Tyr118Ter
NM_001185039.2:c.354T>A NP_001171968.1:p.Tyr118Ter
NM_004035.6:c.468T>A NP_004026.2:p.Tyr156Ter
NM_007292.5:c.468T>A NP_009223.2:p.Tyr156Ter
NM_007292.6:c.468T>A NP_009223.2:p.Tyr156Ter
ENST00000293217.9:c.468T>A ENSP00000293217.4:p.Tyr156Ter
ENST00000301608.8:c.468T>A ENSP00000301608.4:p.Tyr156Ter
ENST00000301608.9:c.468T>A ENSP00000301608.4:p.Tyr156Ter
ENST00000572047.5:c.642T>A ENSP00000459936.1:n.642T>A
ENST00000573078.5:c.629T>A ENSP00000458325.1:p.Met210Lys
ENST00000588176.5:c.431-1582T>A ENSP00000466210.1:n.431-1582T>A
ENST00000589301.1:c.*265T>A ENSP00000468435.1:n.*265T>A
ENST00000591857.5:n.486T>A
XM_011524868.1:c.264T>A XP_011523170.1:p.Tyr88Ter
XM_011524868.3:c.264T>A XP_011523170.1:p.Tyr88Ter
XM_011524869.1:c.60T>A XP_011523171.1:p.Tyr20Ter
XM_011524869.3:c.60T>A XP_011523171.1:p.Tyr20Ter