Linked Data
ClinVar Variation Id:
502697
dbSNP Id:
rs753699011
ExAC:
7:92120741 C / T
gnomAD v2:
7-92120741-C-T
gnomAD v3:
7-92491427-C-T
gnomAD v4:
7-92491427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92491427C>T , CM000669.2:g.92491427C>T | GRCh38 |
| NC_000007.13:g.92120741C>T , CM000669.1:g.92120741C>T | GRCh37 |
| NC_000007.12:g.91958677C>T | NCBI36 |
| NG_008341.1:g.42105G>A | |
| NG_008341.2:g.42105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3283G>A (PEX1) MANE Select | ENSP00000248633.4:p.Asp1095Asn | |
| ENST00000248633.8:c.3283G>A (PEX1) | ENSP00000248633.4:p.Asp1095Asn | |
| ENST00000428214.5:c.3112G>A (PEX1) | ENSP00000394413.1:p.Asp1038Asn | |
| ENST00000438045.5:c.2317G>A (PEX1) | ENSP00000410438.1:p.Asp773Asn | |
| ENST00000484913.5:n.3322G>A (PEX1) | ||
| ENST00000496420.5:n.4338G>A (PEX1) | ||
| NM_000466.2:c.3283G>A (PEX1) | NP_000457.1:p.Asp1095Asn | |
| NM_001282677.1:c.3112G>A (PEX1) | NP_001269606.1:p.Asp1038Asn | |
| NM_001282678.1:c.2659G>A (PEX1) | NP_001269607.1:p.Asp887Asn | |
| XM_005250433.3:c.1534G>A (PEX1) | XP_005250490.1:p.Asp512Asn | |
| XR_242246.3:n.3379G>A (PEX1) | ||
| XM_017012319.2:c.1534G>A (PEX1) | XP_016867808.1:p.Asp512Asn | |
| XR_001744808.2:n.2310G>A (PEX1) | ||
| XR_001744842.2:n.2465C>T (GATAD1) | ||
| XR_001744843.2:n.2396C>T (GATAD1) | ||
| XR_002956472.1:n.2522C>T (GATAD1) | ||
| XR_002956473.1:n.2553C>T (GATAD1) | ||
| XR_002956474.1:n.2470C>T (GATAD1) | ||
| XR_242246.5:n.3330G>A (PEX1) | ||
| XR_927494.3:n.1247C>T (GATAD1) | ||
| XR_927500.3:n.1244C>T (GATAD1) | ||
| XR_927503.3:n.1178C>T (GATAD1) | ||
| NM_000466.3:c.3283G>A (PEX1) MANE Select | NP_000457.1:p.Asp1095Asn | |
| NM_001282677.2:c.3112G>A (PEX1) | NP_001269606.1:p.Asp1038Asn | |
| NM_001282678.2:c.2659G>A (PEX1) | NP_001269607.1:p.Asp887Asn |