Canonical Allele Identifier: CA8776908
Community Standard Title: NM_004035.7(ACOX1):c.825C>T (p.Tyr275=)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75953570G>A , CM000679.2:g.75953570G>A GRCh38
NC_000017.10:g.73949651G>A , CM000679.1:g.73949651G>A GRCh37
NC_000017.9:g.71461246G>A NCBI36
NG_008190.1:g.30794C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.825C>T MANE Select NP_004026.2:p.Tyr275=
ENST00000293217.10:c.825C>T MANE Select ENSP00000293217.4:p.Tyr275=
NM_001185039.1:c.711C>T NP_001171968.1:p.Tyr237=
NM_001185039.2:c.711C>T NP_001171968.1:p.Tyr237=
NM_004035.6:c.825C>T NP_004026.2:p.Tyr275=
NM_007292.5:c.825C>T NP_009223.2:p.Tyr275=
NM_007292.6:c.825C>T NP_009223.2:p.Tyr275=
ENST00000293217.9:c.825C>T ENSP00000293217.4:p.Tyr275=
ENST00000301608.8:c.825C>T ENSP00000301608.4:p.Tyr275=
ENST00000301608.9:c.825C>T ENSP00000301608.4:p.Tyr275=
ENST00000572047.5:c.999C>T ENSP00000459936.1:n.999C>T
ENST00000573078.5:c.*314C>T ENSP00000458325.1:n.*314C>T
ENST00000589744.1:n.75C>T
XM_011524868.1:c.621C>T XP_011523170.1:p.Tyr207=
XM_011524868.3:c.621C>T XP_011523170.1:p.Tyr207=
XM_011524869.1:c.417C>T XP_011523171.1:p.Tyr139=
XM_011524869.3:c.417C>T XP_011523171.1:p.Tyr139=