Linked Data
dbSNP Id:
rs754795815
ExAC:
7:92119195 T / C
gnomAD v2:
7-92119195-T-C
gnomAD v4:
7-92489881-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489881T>C , CM000669.2:g.92489881T>C | GRCh38 |
| NC_000007.13:g.92119195T>C , CM000669.1:g.92119195T>C | GRCh37 |
| NC_000007.12:g.91957131T>C | NCBI36 |
| NG_008341.1:g.43651A>G | |
| NG_008341.2:g.43651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3469A>G (PEX1) MANE Select | ENSP00000248633.4:p.Met1157Val | |
| ENST00000248633.8:c.3469A>G (PEX1) | ENSP00000248633.4:p.Met1157Val | |
| ENST00000428214.5:c.3298A>G (PEX1) | ENSP00000394413.1:p.Met1100Val | |
| ENST00000438045.5:c.2503A>G (PEX1) | ENSP00000410438.1:p.Met835Val | |
| ENST00000469417.1:n.366A>G (PEX1) | ||
| ENST00000484913.5:n.3508A>G (PEX1) | ||
| ENST00000496420.5:n.4524A>G (PEX1) | ||
| NM_000466.2:c.3469A>G (PEX1) | NP_000457.1:p.Met1157Val | |
| NM_001282677.1:c.3298A>G (PEX1) | NP_001269606.1:p.Met1100Val | |
| NM_001282678.1:c.2845A>G (PEX1) | NP_001269607.1:p.Met949Val | |
| XM_005250433.3:c.1720A>G (PEX1) | XP_005250490.1:p.Met574Val | |
| XR_242246.3:n.3565A>G (PEX1) | ||
| XR_927494.1:n.1036-1362T>C (GATAD1) | ||
| XR_927495.1:n.1036-205T>C (GATAD1) | ||
| XR_927496.1:n.1041-1362T>C (GATAD1) | ||
| XR_927497.1:n.1036-205T>C (GATAD1) | ||
| XR_927498.1:n.1124-1362T>C (GATAD1) | ||
| XR_927500.1:n.1033-1362T>C (GATAD1) | ||
| XR_927502.1:n.1033-205T>C (GATAD1) | ||
| XR_927503.1:n.967-1362T>C (GATAD1) | ||
| XM_017012319.2:c.1720A>G (PEX1) | XP_016867808.1:p.Met574Val | |
| XR_001744808.2:n.2496A>G (PEX1) | ||
| XR_001744842.2:n.2281-1362T>C (GATAD1) | ||
| XR_001744843.2:n.2212-1362T>C (GATAD1) | ||
| XR_002956472.1:n.2281-205T>C (GATAD1) | ||
| XR_002956473.1:n.2369-1362T>C (GATAD1) | ||
| XR_002956474.1:n.2286-1362T>C (GATAD1) | ||
| XR_242246.5:n.3516A>G (PEX1) | ||
| XR_927494.3:n.1063-1362T>C (GATAD1) | ||
| XR_927500.3:n.1060-1362T>C (GATAD1) | ||
| XR_927503.3:n.994-1362T>C (GATAD1) | ||
| NM_000466.3:c.3469A>G (PEX1) MANE Select | NP_000457.1:p.Met1157Val | |
| NM_001282677.2:c.3298A>G (PEX1) | NP_001269606.1:p.Met1100Val | |
| NM_001282678.2:c.2845A>G (PEX1) | NP_001269607.1:p.Met949Val |