Linked Data
dbSNP Id:
rs752085471
ExAC:
7:92123692 G / C
gnomAD v2:
7-92123692-G-C
gnomAD v4:
7-92494378-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494378G>C , CM000669.2:g.92494378G>C | GRCh38 |
| NC_000007.13:g.92123692G>C , CM000669.1:g.92123692G>C | GRCh37 |
| NC_000007.12:g.91961628G>C | NCBI36 |
| NG_008341.1:g.39154C>G | |
| NG_008341.2:g.39154C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2945C>G (PEX1) MANE Select | ENSP00000248633.4:p.Ala982Gly | |
| ENST00000248633.8:c.2945C>G (PEX1) | ENSP00000248633.4:p.Ala982Gly | |
| ENST00000428214.5:c.2774C>G (PEX1) | ENSP00000394413.1:p.Ala925Gly | |
| ENST00000438045.5:c.1979C>G (PEX1) | ENSP00000410438.1:p.Ala660Gly | |
| ENST00000484913.5:n.2984C>G (PEX1) | ||
| ENST00000496420.5:n.2837C>G (PEX1) | ||
| NM_000466.2:c.2945C>G (PEX1) | NP_000457.1:p.Ala982Gly | |
| NM_001282677.1:c.2774C>G (PEX1) | NP_001269606.1:p.Ala925Gly | |
| NM_001282678.1:c.2321C>G (PEX1) | NP_001269607.1:p.Ala774Gly | |
| XM_005250433.3:c.1196C>G (PEX1) | XP_005250490.1:p.Ala399Gly | |
| XR_242246.3:n.3041C>G (PEX1) | ||
| XM_017012319.2:c.1196C>G (PEX1) | XP_016867808.1:p.Ala399Gly | |
| XR_001744808.2:n.1972C>G (PEX1) | ||
| XR_001744843.2:n.5347G>C (GATAD1) | ||
| XR_242246.5:n.2992C>G (PEX1) | ||
| XR_927494.3:n.4198G>C (GATAD1) | ||
| XR_927503.3:n.4129G>C (GATAD1) | ||
| NM_000466.3:c.2945C>G (PEX1) MANE Select | NP_000457.1:p.Ala982Gly | |
| NM_001282677.2:c.2774C>G (PEX1) | NP_001269606.1:p.Ala925Gly | |
| NM_001282678.2:c.2321C>G (PEX1) | NP_001269607.1:p.Ala774Gly |