Canonical Allele Identifier: CA8777035
Community Standard Title: NM_004035.7(ACOX1):c.408T>C (p.Tyr136=)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75960237A>G , CM000679.2:g.75960237A>G GRCh38
NC_000017.10:g.73956318A>G , CM000679.1:g.73956318A>G GRCh37
NC_000017.9:g.71467913A>G NCBI36
NG_008190.1:g.24127T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.408T>C MANE Select NP_004026.2:p.Tyr136=
ENST00000293217.10:c.408T>C MANE Select ENSP00000293217.4:p.Tyr136=
NM_001185039.1:c.294T>C NP_001171968.1:p.Tyr98=
NM_001185039.2:c.294T>C NP_001171968.1:p.Tyr98=
NM_004035.6:c.408T>C NP_004026.2:p.Tyr136=
NM_007292.5:c.431-2671T>C NP_009223.2:n.431-2671T>C
NM_007292.6:c.431-2671T>C NP_009223.2:n.431-2671T>C
ENST00000293217.9:c.408T>C ENSP00000293217.4:p.Tyr136=
ENST00000301608.8:c.431-2671T>C ENSP00000301608.4:n.431-2671T>C
ENST00000301608.9:c.431-2671T>C ENSP00000301608.4:n.431-2671T>C
ENST00000572047.5:c.582T>C ENSP00000459936.1:n.582T>C
ENST00000573078.5:c.569T>C ENSP00000458325.1:p.Met190Thr
ENST00000588176.5:c.431-4290T>C ENSP00000466210.1:n.431-4290T>C
ENST00000589301.1:c.*228-2671T>C ENSP00000468435.1:n.*228-2671T>C
ENST00000591857.5:n.426T>C
XM_011524868.1:c.204T>C XP_011523170.1:p.Tyr68=
XM_011524868.3:c.204T>C XP_011523170.1:p.Tyr68=
XM_011524869.1:c.23-2671T>C XP_011523171.1:n.23-2671T>C
XM_011524869.3:c.23-2671T>C XP_011523171.1:n.23-2671T>C