Canonical Allele Identifier: CA8777051
Gene: ACOX1 HGNC NCBI
ClinVar RCV:
RCV002928069
RCV004548415
ClinVar Variation:
2054535
dbSNP:
148357481
gnomAD v2:
17:73956439 C / T
gnomAD v3:
17:75960358 C / T
gnomAD v4:
chr17-75960358-C-T
Joint Max Group AF 0.00002394 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002285 (NFE)
MyVariant.info:
GRCh38 chr17:g.75960358C>T
GRCh37 chr17:g.73956439C>T
Revel Score:
ENST00000293217 (MANE Select) 0.109
ENST00000537812 0.109
ENST00000539791 0.109
ENST00000538781 0.109
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75960358C>T , CM000679.2:g.75960358C>T GRCh38
NC_000017.10:g.73956439C>T , CM000679.1:g.73956439C>T GRCh37
NC_000017.9:g.71468034C>T NCBI36
NG_008190.1:g.24006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301608.9:c.431-2792G>A ENSP00000301608.4:n.431-2792G>A
ENST00000293217.10:c.287G>A MANE Select ENSP00000293217.4:p.Arg96Gln
ENST00000293217.9:c.287G>A ENSP00000293217.4:p.Arg96Gln
ENST00000301608.8:c.431-2792G>A ENSP00000301608.4:n.431-2792G>A
ENST00000572047.5:c.461G>A ENSP00000459936.1:n.461G>A
ENST00000573078.5:c.448G>A ENSP00000458325.1:p.Gly150Ser
ENST00000588176.5:c.431-4411G>A ENSP00000466210.1:n.431-4411G>A
ENST00000589301.1:c.*228-2792G>A ENSP00000468435.1:n.*228-2792G>A
ENST00000591857.5:n.305G>A
NM_001185039.1:c.173G>A NP_001171968.1:p.Arg58Gln
NM_004035.6:c.287G>A NP_004026.2:p.Arg96Gln
NM_007292.5:c.431-2792G>A NP_009223.2:n.431-2792G>A
XM_011524868.1:c.83G>A XP_011523170.1:p.Arg28Gln
XM_011524869.1:c.23-2792G>A XP_011523171.1:n.23-2792G>A
XM_011524868.3:c.83G>A XP_011523170.1:p.Arg28Gln
XM_011524869.3:c.23-2792G>A XP_011523171.1:n.23-2792G>A
NM_004035.7:c.287G>A MANE Select NP_004026.2:p.Arg96Gln
NM_001185039.2:c.173G>A NP_001171968.1:p.Arg58Gln
NM_007292.6:c.431-2792G>A NP_009223.2:n.431-2792G>A
Search 100 bp 5'
Search 100 bp 3'