Linked Data
ClinVar Variation Id:
2418889
ClinVar RCV Id:
RCV003112133
dbSNP Id:
rs762279727
ExAC:
7:92119162 C / T
gnomAD v2:
7-92119162-C-T
gnomAD v4:
7-92489848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489848C>T , CM000669.2:g.92489848C>T | GRCh38 |
| NC_000007.13:g.92119162C>T , CM000669.1:g.92119162C>T | GRCh37 |
| NC_000007.12:g.91957098C>T | NCBI36 |
| NG_008341.1:g.43684G>A | |
| NG_008341.2:g.43684G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3502G>A (PEX1) MANE Select | ENSP00000248633.4:p.Asp1168Asn | |
| ENST00000248633.8:c.3502G>A (PEX1) | ENSP00000248633.4:p.Asp1168Asn | |
| ENST00000428214.5:c.3331G>A (PEX1) | ENSP00000394413.1:p.Asp1111Asn | |
| ENST00000438045.5:c.2536G>A (PEX1) | ENSP00000410438.1:p.Asp846Asn | |
| ENST00000469417.1:n.399G>A (PEX1) | ||
| ENST00000484913.5:n.3541G>A (PEX1) | ||
| ENST00000496420.5:n.4557G>A (PEX1) | ||
| NM_000466.2:c.3502G>A (PEX1) | NP_000457.1:p.Asp1168Asn | |
| NM_001282677.1:c.3331G>A (PEX1) | NP_001269606.1:p.Asp1111Asn | |
| NM_001282678.1:c.2878G>A (PEX1) | NP_001269607.1:p.Asp960Asn | |
| XM_005250433.3:c.1753G>A (PEX1) | XP_005250490.1:p.Asp585Asn | |
| XR_242246.3:n.3598G>A (PEX1) | ||
| XR_927494.1:n.1036-1395C>T (GATAD1) | ||
| XR_927495.1:n.1036-238C>T (GATAD1) | ||
| XR_927496.1:n.1041-1395C>T (GATAD1) | ||
| XR_927497.1:n.1036-238C>T (GATAD1) | ||
| XR_927498.1:n.1124-1395C>T (GATAD1) | ||
| XR_927500.1:n.1033-1395C>T (GATAD1) | ||
| XR_927502.1:n.1033-238C>T (GATAD1) | ||
| XR_927503.1:n.967-1395C>T (GATAD1) | ||
| XM_017012319.2:c.1753G>A (PEX1) | XP_016867808.1:p.Asp585Asn | |
| XR_001744808.2:n.2529G>A (PEX1) | ||
| XR_001744842.2:n.2281-1395C>T (GATAD1) | ||
| XR_001744843.2:n.2212-1395C>T (GATAD1) | ||
| XR_002956472.1:n.2281-238C>T (GATAD1) | ||
| XR_002956473.1:n.2369-1395C>T (GATAD1) | ||
| XR_002956474.1:n.2286-1395C>T (GATAD1) | ||
| XR_242246.5:n.3549G>A (PEX1) | ||
| XR_927494.3:n.1063-1395C>T (GATAD1) | ||
| XR_927500.3:n.1060-1395C>T (GATAD1) | ||
| XR_927503.3:n.994-1395C>T (GATAD1) | ||
| NM_000466.3:c.3502G>A (PEX1) MANE Select | NP_000457.1:p.Asp1168Asn | |
| NM_001282677.2:c.3331G>A (PEX1) | NP_001269606.1:p.Asp1111Asn | |
| NM_001282678.2:c.2878G>A (PEX1) | NP_001269607.1:p.Asp960Asn |