Linked Data
ClinVar Variation Id:
360916
dbSNP Id:
rs781277635
ExAC:
7:92120774 T / C
gnomAD v2:
7-92120774-T-C
gnomAD v3:
7-92491460-T-C
gnomAD v4:
7-92491460-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92491460T>C , CM000669.2:g.92491460T>C | GRCh38 |
| NC_000007.13:g.92120774T>C , CM000669.1:g.92120774T>C | GRCh37 |
| NC_000007.12:g.91958710T>C | NCBI36 |
| NG_008341.1:g.42072A>G | |
| NG_008341.2:g.42072A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3250A>G (PEX1) MANE Select | ENSP00000248633.4:p.Met1084Val | |
| ENST00000248633.8:c.3250A>G (PEX1) | ENSP00000248633.4:p.Met1084Val | |
| ENST00000428214.5:c.3079A>G (PEX1) | ENSP00000394413.1:p.Met1027Val | |
| ENST00000438045.5:c.2284A>G (PEX1) | ENSP00000410438.1:p.Met762Val | |
| ENST00000484913.5:n.3289A>G (PEX1) | ||
| ENST00000496420.5:n.4305A>G (PEX1) | ||
| NM_000466.2:c.3250A>G (PEX1) | NP_000457.1:p.Met1084Val | |
| NM_001282677.1:c.3079A>G (PEX1) | NP_001269606.1:p.Met1027Val | |
| NM_001282678.1:c.2626A>G (PEX1) | NP_001269607.1:p.Met876Val | |
| XM_005250433.3:c.1501A>G (PEX1) | XP_005250490.1:p.Met501Val | |
| XR_242246.3:n.3346A>G (PEX1) | ||
| XM_017012319.2:c.1501A>G (PEX1) | XP_016867808.1:p.Met501Val | |
| XR_001744808.2:n.2277A>G (PEX1) | ||
| XR_001744842.2:n.2498T>C (GATAD1) | ||
| XR_001744843.2:n.2429T>C (GATAD1) | ||
| XR_002956472.1:n.2555T>C (GATAD1) | ||
| XR_002956473.1:n.2586T>C (GATAD1) | ||
| XR_002956474.1:n.2503T>C (GATAD1) | ||
| XR_242246.5:n.3297A>G (PEX1) | ||
| XR_927494.3:n.1280T>C (GATAD1) | ||
| XR_927500.3:n.1277T>C (GATAD1) | ||
| XR_927503.3:n.1211T>C (GATAD1) | ||
| NM_000466.3:c.3250A>G (PEX1) MANE Select | NP_000457.1:p.Met1084Val | |
| NM_001282677.2:c.3079A>G (PEX1) | NP_001269606.1:p.Met1027Val | |
| NM_001282678.2:c.2626A>G (PEX1) | NP_001269607.1:p.Met876Val |