Canonical Allele Identifier: CA8776854
Community Standard Title: NM_004035.7(ACOX1):c.1068C>T (p.Asn356=)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75951454G>A , CM000679.2:g.75951454G>A GRCh38
NC_000017.10:g.73947535G>A , CM000679.1:g.73947535G>A GRCh37
NC_000017.9:g.71459130G>A NCBI36
NG_008190.1:g.32910C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.1068C>T MANE Select NP_004026.2:p.Asn356=
ENST00000293217.10:c.1068C>T MANE Select ENSP00000293217.4:p.Asn356=
NM_001185039.1:c.954C>T NP_001171968.1:p.Asn318=
NM_001185039.2:c.954C>T NP_001171968.1:p.Asn318=
NM_004035.6:c.1068C>T NP_004026.2:p.Asn356=
NM_007292.5:c.1068C>T NP_009223.2:p.Asn356=
NM_007292.6:c.1068C>T NP_009223.2:p.Asn356=
ENST00000293217.9:c.1068C>T ENSP00000293217.4:p.Asn356=
ENST00000301608.8:c.1068C>T ENSP00000301608.4:p.Asn356=
ENST00000301608.9:c.1068C>T ENSP00000301608.4:p.Asn356=
ENST00000572047.5:c.1242C>T ENSP00000459936.1:n.1242C>T
ENST00000573078.5:c.*557C>T ENSP00000458325.1:n.*557C>T
XM_011524868.1:c.864C>T XP_011523170.1:p.Asn288=
XM_011524868.3:c.864C>T XP_011523170.1:p.Asn288=
XM_011524869.1:c.660C>T XP_011523171.1:p.Asn220=
XM_011524869.3:c.660C>T XP_011523171.1:p.Asn220=