Linked Data
ClinVar Variation Id:
1380013
ClinVar RCV Id:
RCV001892143
dbSNP Id:
rs764752742
ExAC:
7:92119024 A / G
gnomAD v2:
7-92119024-A-G
gnomAD v3:
7-92489710-A-G
gnomAD v4:
7-92489710-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489710A>G , CM000669.2:g.92489710A>G | GRCh38 |
| NC_000007.13:g.92119024A>G , CM000669.1:g.92119024A>G | GRCh37 |
| NC_000007.12:g.91956960A>G | NCBI36 |
| NG_008341.1:g.43822T>C | |
| NG_008341.2:g.43822T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.3636+4T>C (PEX1) MANE Select | ENSP00000248633.4:n.3636+4T>C | |
| ENST00000248633.8:c.3636+4T>C (PEX1) | ENSP00000248633.4:n.3636+4T>C | |
| ENST00000428214.5:c.3465+4T>C (PEX1) | ENSP00000394413.1:n.3465+4T>C | |
| ENST00000438045.5:c.2670+4T>C (PEX1) | ENSP00000410438.1:n.2670+4T>C | |
| ENST00000469417.1:n.533+4T>C (PEX1) | ||
| ENST00000477342.1:n.85T>C (PEX1) | ||
| ENST00000484913.5:n.3675+4T>C (PEX1) | ||
| ENST00000496420.5:n.4686+9T>C (PEX1) | ||
| NM_000466.2:c.3636+4T>C (PEX1) | NP_000457.1:n.3636+4T>C | |
| NM_001282677.1:c.3465+4T>C (PEX1) | NP_001269606.1:n.3465+4T>C | |
| NM_001282678.1:c.3012+4T>C (PEX1) | NP_001269607.1:n.3012+4T>C | |
| XM_005250433.3:c.1887+4T>C (PEX1) | XP_005250490.1:n.1887+4T>C | |
| XR_242246.3:n.3727+9T>C (PEX1) | ||
| XR_927494.1:n.1036-1533A>G (GATAD1) | ||
| XR_927495.1:n.1036-376A>G (GATAD1) | ||
| XR_927496.1:n.1041-1533A>G (GATAD1) | ||
| XR_927497.1:n.1036-376A>G (GATAD1) | ||
| XR_927498.1:n.1124-1533A>G (GATAD1) | ||
| XR_927500.1:n.1033-1533A>G (GATAD1) | ||
| XR_927502.1:n.1033-376A>G (GATAD1) | ||
| XR_927503.1:n.967-1533A>G (GATAD1) | ||
| XM_017012319.2:c.1887+4T>C (PEX1) | XP_016867808.1:n.1887+4T>C | |
| XR_001744808.2:n.2658+9T>C (PEX1) | ||
| XR_001744842.2:n.2281-1533A>G (GATAD1) | ||
| XR_001744843.2:n.2212-1533A>G (GATAD1) | ||
| XR_002956472.1:n.2281-376A>G (GATAD1) | ||
| XR_002956473.1:n.2369-1533A>G (GATAD1) | ||
| XR_002956474.1:n.2286-1533A>G (GATAD1) | ||
| XR_242246.5:n.3678+9T>C (PEX1) | ||
| XR_927494.3:n.1063-1533A>G (GATAD1) | ||
| XR_927500.3:n.1060-1533A>G (GATAD1) | ||
| XR_927503.3:n.994-1533A>G (GATAD1) | ||
| NM_000466.3:c.3636+4T>C (PEX1) MANE Select | NP_000457.1:n.3636+4T>C | |
| NM_001282677.2:c.3465+4T>C (PEX1) | NP_001269606.1:n.3465+4T>C | |
| NM_001282678.2:c.3012+4T>C (PEX1) | NP_001269607.1:n.3012+4T>C |