Linked Data
ClinVar Variation Id:
957949
ClinVar RCV Id:
RCV001231027
dbSNP Id:
rs61750429
gnomAD v3:
7-92494330-C-T
gnomAD v4:
7-92494330-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494330C>T , CM000669.2:g.92494330C>T | GRCh38 |
| NC_000007.13:g.92123644C>T , CM000669.1:g.92123644C>T | GRCh37 |
| NC_000007.12:g.91961580C>T | NCBI36 |
| NG_008341.1:g.39202G>A | |
| NG_008341.2:g.39202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2993G>A (PEX1) MANE Select | ENSP00000248633.4:p.Arg998Gln | |
| ENST00000248633.8:c.2993G>A (PEX1) | ENSP00000248633.4:p.Arg998Gln | |
| ENST00000428214.5:c.2822G>A (PEX1) | ENSP00000394413.1:p.Arg941Gln | |
| ENST00000438045.5:c.2027G>A (PEX1) | ENSP00000410438.1:p.Arg676Gln | |
| ENST00000484913.5:n.3032G>A (PEX1) | ||
| ENST00000496420.5:n.2885G>A (PEX1) | ||
| NM_000466.2:c.2993G>A (PEX1) | NP_000457.1:p.Arg998Gln | |
| NM_001282677.1:c.2822G>A (PEX1) | NP_001269606.1:p.Arg941Gln | |
| NM_001282678.1:c.2369G>A (PEX1) | NP_001269607.1:p.Arg790Gln | |
| XM_005250433.3:c.1244G>A (PEX1) | XP_005250490.1:p.Arg415Gln | |
| XR_242246.3:n.3089G>A (PEX1) | ||
| XM_017012319.2:c.1244G>A (PEX1) | XP_016867808.1:p.Arg415Gln | |
| XR_001744808.2:n.2020G>A (PEX1) | ||
| XR_001744843.2:n.5299C>T (GATAD1) | ||
| XR_242246.5:n.3040G>A (PEX1) | ||
| XR_927494.3:n.4150C>T (GATAD1) | ||
| XR_927503.3:n.4081C>T (GATAD1) | ||
| NM_000466.3:c.2993G>A (PEX1) MANE Select | NP_000457.1:p.Arg998Gln | |
| NM_001282677.2:c.2822G>A (PEX1) | NP_001269606.1:p.Arg941Gln | |
| NM_001282678.2:c.2369G>A (PEX1) | NP_001269607.1:p.Arg790Gln |