Canonical Allele Identifier: CA10650234
Community Standard Title: NM_004035.7(ACOX1):c.1866C>A (p.Gly622=)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75948320G>T , CM000679.2:g.75948320G>T GRCh38
NC_000017.10:g.73944401G>T , CM000679.1:g.73944401G>T GRCh37
NC_000017.9:g.71455996G>T NCBI36
NG_008190.1:g.36044C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.1866C>A MANE Select NP_004026.2:p.Gly622=
ENST00000293217.10:c.1866C>A MANE Select ENSP00000293217.4:p.Gly622=
NM_001185039.1:c.1752C>A NP_001171968.1:p.Gly584=
NM_001185039.2:c.1752C>A NP_001171968.1:p.Gly584=
NM_004035.6:c.1866C>A NP_004026.2:p.Gly622=
NM_007292.5:c.1866C>A NP_009223.2:p.Gly622=
NM_007292.6:c.1866C>A NP_009223.2:p.Gly622=
ENST00000293217.9:c.1866C>A ENSP00000293217.4:p.Gly622=
ENST00000301608.8:c.1866C>A ENSP00000301608.4:p.Gly622=
ENST00000301608.9:c.1866C>A ENSP00000301608.4:p.Gly622=
ENST00000572047.5:c.2040C>A ENSP00000459936.1:n.2040C>A
ENST00000573078.5:c.*1355C>A ENSP00000458325.1:n.*1355C>A
ENST00000587927.5:c.281C>A
ENST00000588968.5:c.320C>A
XM_011524868.1:c.1662C>A XP_011523170.1:p.Gly554=
XM_011524868.3:c.1662C>A XP_011523170.1:p.Gly554=
XM_011524869.1:c.1458C>A XP_011523171.1:p.Gly486=
XM_011524869.3:c.1458C>A XP_011523171.1:p.Gly486=