Linked Data
dbSNP Id:
rs755475837
ExAC:
7:92123693 C / T
gnomAD v2:
7-92123693-C-T
gnomAD v4:
7-92494379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494379C>T , CM000669.2:g.92494379C>T | GRCh38 |
| NC_000007.13:g.92123693C>T , CM000669.1:g.92123693C>T | GRCh37 |
| NC_000007.12:g.91961629C>T | NCBI36 |
| NG_008341.1:g.39153G>A | |
| NG_008341.2:g.39153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2944G>A (PEX1) MANE Select | ENSP00000248633.4:p.Ala982Thr | |
| ENST00000248633.8:c.2944G>A (PEX1) | ENSP00000248633.4:p.Ala982Thr | |
| ENST00000428214.5:c.2773G>A (PEX1) | ENSP00000394413.1:p.Ala925Thr | |
| ENST00000438045.5:c.1978G>A (PEX1) | ENSP00000410438.1:p.Ala660Thr | |
| ENST00000484913.5:n.2983G>A (PEX1) | ||
| ENST00000496420.5:n.2836G>A (PEX1) | ||
| NM_000466.2:c.2944G>A (PEX1) | NP_000457.1:p.Ala982Thr | |
| NM_001282677.1:c.2773G>A (PEX1) | NP_001269606.1:p.Ala925Thr | |
| NM_001282678.1:c.2320G>A (PEX1) | NP_001269607.1:p.Ala774Thr | |
| XM_005250433.3:c.1195G>A (PEX1) | XP_005250490.1:p.Ala399Thr | |
| XR_242246.3:n.3040G>A (PEX1) | ||
| XM_017012319.2:c.1195G>A (PEX1) | XP_016867808.1:p.Ala399Thr | |
| XR_001744808.2:n.1971G>A (PEX1) | ||
| XR_001744843.2:n.5348C>T (GATAD1) | ||
| XR_242246.5:n.2991G>A (PEX1) | ||
| XR_927494.3:n.4199C>T (GATAD1) | ||
| XR_927503.3:n.4130C>T (GATAD1) | ||
| NM_000466.3:c.2944G>A (PEX1) MANE Select | NP_000457.1:p.Ala982Thr | |
| NM_001282677.2:c.2773G>A (PEX1) | NP_001269606.1:p.Ala925Thr | |
| NM_001282678.2:c.2320G>A (PEX1) | NP_001269607.1:p.Ala774Thr |