Canonical Allele Identifier: CA401059910
Community Standard Title: NM_004035.7(ACOX1):c.1668G>T (p.Arg556Ser)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75949277C>A , CM000679.2:g.75949277C>A GRCh38
NC_000017.10:g.73945358C>A , CM000679.1:g.73945358C>A GRCh37
NC_000017.9:g.71456953C>A NCBI36
NG_008190.1:g.35087G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.1668G>T MANE Select NP_004026.2:p.Arg556Ser
ENST00000293217.10:c.1668G>T MANE Select ENSP00000293217.4:p.Arg556Ser
NM_001185039.1:c.1554G>T NP_001171968.1:p.Arg518Ser
NM_001185039.2:c.1554G>T NP_001171968.1:p.Arg518Ser
NM_004035.6:c.1668G>T NP_004026.2:p.Arg556Ser
NM_007292.5:c.1668G>T NP_009223.2:p.Arg556Ser
NM_007292.6:c.1668G>T NP_009223.2:p.Arg556Ser
ENST00000293217.9:c.1668G>T ENSP00000293217.4:p.Arg556Ser
ENST00000301608.8:c.1668G>T ENSP00000301608.4:p.Arg556Ser
ENST00000301608.9:c.1668G>T ENSP00000301608.4:p.Arg556Ser
ENST00000572047.5:c.1842G>T ENSP00000459936.1:n.1842G>T
ENST00000573078.5:c.*1157G>T ENSP00000458325.1:n.*1157G>T
ENST00000587927.5:c.83G>T
ENST00000588968.5:c.122G>T
XM_011524868.1:c.1464G>T XP_011523170.1:p.Arg488Ser
XM_011524868.3:c.1464G>T XP_011523170.1:p.Arg488Ser
XM_011524869.1:c.1260G>T XP_011523171.1:p.Arg420Ser
XM_011524869.3:c.1260G>T XP_011523171.1:p.Arg420Ser