Canonical Allele Identifier: CA2639926500
Community Standard Title: NM_004035.7(ACOX1):c.430+66C>T
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75960149G>A , CM000679.2:g.75960149G>A GRCh38
NC_000017.10:g.73956230G>A , CM000679.1:g.73956230G>A GRCh37
NC_000017.9:g.71467825G>A NCBI36
NG_008190.1:g.24215C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.430+66C>T MANE Select NP_004026.2:n.430+66C>T
ENST00000293217.10:c.430+66C>T MANE Select ENSP00000293217.4:n.430+66C>T
NM_001185039.1:c.316+66C>T NP_001171968.1:n.316+66C>T
NM_001185039.2:c.316+66C>T NP_001171968.1:n.316+66C>T
NM_004035.6:c.430+66C>T NP_004026.2:n.430+66C>T
NM_007292.5:c.431-2583C>T NP_009223.2:n.431-2583C>T
NM_007292.6:c.431-2583C>T NP_009223.2:n.431-2583C>T
ENST00000293217.9:c.430+66C>T ENSP00000293217.4:n.430+66C>T
ENST00000301608.8:c.431-2583C>T ENSP00000301608.4:n.431-2583C>T
ENST00000301608.9:c.431-2583C>T ENSP00000301608.4:n.431-2583C>T
ENST00000572047.5:c.604+66C>T ENSP00000459936.1:n.604+66C>T
ENST00000573078.5:c.591+66C>T ENSP00000458325.1:n.591+66C>T
ENST00000588176.5:c.431-4202C>T ENSP00000466210.1:n.431-4202C>T
ENST00000589301.1:c.*228-2583C>T ENSP00000468435.1:n.*228-2583C>T
ENST00000591857.5:n.448+66C>T
XM_011524868.1:c.226+66C>T XP_011523170.1:n.226+66C>T
XM_011524868.3:c.226+66C>T XP_011523170.1:n.226+66C>T
XM_011524869.1:c.23-2583C>T XP_011523171.1:n.23-2583C>T
XM_011524869.3:c.23-2583C>T XP_011523171.1:n.23-2583C>T