ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018732 (AFR)
Genomes Max Group AF
0.00012868 (AMR)
Exomes Max Group AF
0.00020626 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92492962A>G , CM000669.2:g.92492962A>G | GRCh38 |
| NC_000007.13:g.92122276A>G , CM000669.1:g.92122276A>G | GRCh37 |
| NC_000007.12:g.91960212A>G | NCBI36 |
| NG_008341.1:g.40570T>C | |
| NG_008341.2:g.40570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3198T>C (PEX1) MANE Select | ENSP00000248633.4:p.Ser1066= | |
| ENST00000248633.8:c.3198T>C (PEX1) | ENSP00000248633.4:p.Ser1066= | |
| ENST00000428214.5:c.3027T>C (PEX1) | ENSP00000394413.1:p.Ser1009= | |
| ENST00000438045.5:c.2232T>C (PEX1) | ENSP00000410438.1:p.Ser744= | |
| ENST00000484913.5:n.3237T>C (PEX1) | ||
| ENST00000496420.5:n.4253T>C (PEX1) | ||
| NM_000466.2:c.3198T>C (PEX1) | NP_000457.1:p.Ser1066= | |
| NM_001282677.1:c.3027T>C (PEX1) | NP_001269606.1:p.Ser1009= | |
| NM_001282678.1:c.2574T>C (PEX1) | NP_001269607.1:p.Ser858= | |
| XM_005250433.3:c.1449T>C (PEX1) | XP_005250490.1:p.Ser483= | |
| XR_242246.3:n.3294T>C (PEX1) | ||
| XM_017012319.2:c.1449T>C (PEX1) | XP_016867808.1:p.Ser483= | |
| XR_001744808.2:n.2225T>C (PEX1) | ||
| XR_001744842.2:n.4000A>G (GATAD1) | ||
| XR_001744843.2:n.3931A>G (GATAD1) | ||
| XR_002956472.1:n.4057A>G (GATAD1) | ||
| XR_002956473.1:n.4088A>G (GATAD1) | ||
| XR_002956474.1:n.4005A>G (GATAD1) | ||
| XR_242246.5:n.3245T>C (PEX1) | ||
| XR_927494.3:n.2782A>G (GATAD1) | ||
| XR_927500.3:n.2779A>G (GATAD1) | ||
| XR_927503.3:n.2713A>G (GATAD1) | ||
| NM_000466.3:c.3198T>C (PEX1) MANE Select | NP_000457.1:p.Ser1066= | |
| NM_001282677.2:c.3027T>C (PEX1) | NP_001269606.1:p.Ser1009= | |
| NM_001282678.2:c.2574T>C (PEX1) | NP_001269607.1:p.Ser858= |