Linked Data
dbSNP Id:
rs775034555
ExAC:
7:92120812 C / G
gnomAD v2:
7-92120812-C-G
gnomAD v3:
7-92491498-C-G
gnomAD v4:
7-92491498-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92491498C>G , CM000669.2:g.92491498C>G | GRCh38 |
| NC_000007.13:g.92120812C>G , CM000669.1:g.92120812C>G | GRCh37 |
| NC_000007.12:g.91958748C>G | NCBI36 |
| NG_008341.1:g.42034G>C | |
| NG_008341.2:g.42034G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3212G>C (PEX1) MANE Select | ENSP00000248633.4:p.Gly1071Ala | |
| ENST00000248633.8:c.3212G>C (PEX1) | ENSP00000248633.4:p.Gly1071Ala | |
| ENST00000428214.5:c.3041G>C (PEX1) | ENSP00000394413.1:p.Gly1014Ala | |
| ENST00000438045.5:c.2246G>C (PEX1) | ENSP00000410438.1:p.Gly749Ala | |
| ENST00000484913.5:n.3251G>C (PEX1) | ||
| ENST00000496420.5:n.4267G>C (PEX1) | ||
| NM_000466.2:c.3212G>C (PEX1) | NP_000457.1:p.Gly1071Ala | |
| NM_001282677.1:c.3041G>C (PEX1) | NP_001269606.1:p.Gly1014Ala | |
| NM_001282678.1:c.2588G>C (PEX1) | NP_001269607.1:p.Gly863Ala | |
| XM_005250433.3:c.1463G>C (PEX1) | XP_005250490.1:p.Gly488Ala | |
| XR_242246.3:n.3308G>C (PEX1) | ||
| XM_017012319.2:c.1463G>C (PEX1) | XP_016867808.1:p.Gly488Ala | |
| XR_001744808.2:n.2239G>C (PEX1) | ||
| XR_001744842.2:n.2536C>G (GATAD1) | ||
| XR_001744843.2:n.2467C>G (GATAD1) | ||
| XR_002956472.1:n.2593C>G (GATAD1) | ||
| XR_002956473.1:n.2624C>G (GATAD1) | ||
| XR_002956474.1:n.2541C>G (GATAD1) | ||
| XR_242246.5:n.3259G>C (PEX1) | ||
| XR_927494.3:n.1318C>G (GATAD1) | ||
| XR_927500.3:n.1315C>G (GATAD1) | ||
| XR_927503.3:n.1249C>G (GATAD1) | ||
| NM_000466.3:c.3212G>C (PEX1) MANE Select | NP_000457.1:p.Gly1071Ala | |
| NM_001282677.2:c.3041G>C (PEX1) | NP_001269606.1:p.Gly1014Ala | |
| NM_001282678.2:c.2588G>C (PEX1) | NP_001269607.1:p.Gly863Ala |