Linked Data
ClinVar Variation Id:
360917
dbSNP Id:
rs776231556
ExAC:
7:92122309 T / C
gnomAD v2:
7-92122309-T-C
gnomAD v3:
7-92492995-T-C
gnomAD v4:
7-92492995-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92492995T>C , CM000669.2:g.92492995T>C | GRCh38 |
| NC_000007.13:g.92122309T>C , CM000669.1:g.92122309T>C | GRCh37 |
| NC_000007.12:g.91960245T>C | NCBI36 |
| NG_008341.1:g.40537A>G | |
| NG_008341.2:g.40537A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3165A>G (PEX1) MANE Select | ENSP00000248633.4:p.Gln1055= | |
| ENST00000248633.8:c.3165A>G (PEX1) | ENSP00000248633.4:p.Gln1055= | |
| ENST00000428214.5:c.2994A>G (PEX1) | ENSP00000394413.1:p.Gln998= | |
| ENST00000438045.5:c.2199A>G (PEX1) | ENSP00000410438.1:p.Gln733= | |
| ENST00000484913.5:n.3204A>G (PEX1) | ||
| ENST00000496420.5:n.4220A>G (PEX1) | ||
| NM_000466.2:c.3165A>G (PEX1) | NP_000457.1:p.Gln1055= | |
| NM_001282677.1:c.2994A>G (PEX1) | NP_001269606.1:p.Gln998= | |
| NM_001282678.1:c.2541A>G (PEX1) | NP_001269607.1:p.Gln847= | |
| XM_005250433.3:c.1416A>G (PEX1) | XP_005250490.1:p.Gln472= | |
| XR_242246.3:n.3261A>G (PEX1) | ||
| XM_017012319.2:c.1416A>G (PEX1) | XP_016867808.1:p.Gln472= | |
| XR_001744808.2:n.2192A>G (PEX1) | ||
| XR_001744842.2:n.4033T>C (GATAD1) | ||
| XR_001744843.2:n.3964T>C (GATAD1) | ||
| XR_002956472.1:n.4090T>C (GATAD1) | ||
| XR_002956473.1:n.4121T>C (GATAD1) | ||
| XR_002956474.1:n.4038T>C (GATAD1) | ||
| XR_242246.5:n.3212A>G (PEX1) | ||
| XR_927494.3:n.2815T>C (GATAD1) | ||
| XR_927500.3:n.2812T>C (GATAD1) | ||
| XR_927503.3:n.2746T>C (GATAD1) | ||
| NM_000466.3:c.3165A>G (PEX1) MANE Select | NP_000457.1:p.Gln1055= | |
| NM_001282677.2:c.2994A>G (PEX1) | NP_001269606.1:p.Gln998= | |
| NM_001282678.2:c.2541A>G (PEX1) | NP_001269607.1:p.Gln847= |