Canonical Allele Identifier: CA401065034
Community Standard Title: NM_004035.7(ACOX1):c.944+1G>T
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75953450C>A , CM000679.2:g.75953450C>A GRCh38
NC_000017.10:g.73949531C>A , CM000679.1:g.73949531C>A GRCh37
NC_000017.9:g.71461126C>A NCBI36
NG_008190.1:g.30914G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.944+1G>T MANE Select NP_004026.2:n.944+1G>T
ENST00000293217.10:c.944+1G>T MANE Select ENSP00000293217.4:n.944+1G>T
NM_001185039.1:c.830+1G>T NP_001171968.1:n.830+1G>T
NM_001185039.2:c.830+1G>T NP_001171968.1:n.830+1G>T
NM_004035.6:c.944+1G>T NP_004026.2:n.944+1G>T
NM_007292.5:c.944+1G>T NP_009223.2:n.944+1G>T
NM_007292.6:c.944+1G>T NP_009223.2:n.944+1G>T
ENST00000293217.9:c.944+1G>T ENSP00000293217.4:n.944+1G>T
ENST00000301608.8:c.944+1G>T ENSP00000301608.4:n.944+1G>T
ENST00000301608.9:c.944+1G>T ENSP00000301608.4:n.944+1G>T
ENST00000572047.5:c.1118+1G>T ENSP00000459936.1:n.1118+1G>T
ENST00000573078.5:c.*433+1G>T ENSP00000458325.1:n.*433+1G>T
ENST00000589744.1:n.195G>T
XM_011524868.1:c.740+1G>T XP_011523170.1:n.740+1G>T
XM_011524868.3:c.740+1G>T XP_011523170.1:n.740+1G>T
XM_011524869.1:c.536+1G>T XP_011523171.1:n.536+1G>T
XM_011524869.3:c.536+1G>T XP_011523171.1:n.536+1G>T