Linked Data
ClinVar Variation Id:
289972
dbSNP Id:
rs185181696
ExAC:
7:92122430 T / G
gnomAD v2:
7-92122430-T-G
gnomAD v3:
7-92493116-T-G
gnomAD v4:
7-92493116-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92493116T>G , CM000669.2:g.92493116T>G | GRCh38 |
| NC_000007.13:g.92122430T>G , CM000669.1:g.92122430T>G | GRCh37 |
| NC_000007.12:g.91960366T>G | NCBI36 |
| NG_008341.1:g.40416A>C | |
| NG_008341.2:g.40416A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3044A>C (PEX1) MANE Select | ENSP00000248633.4:p.Glu1015Ala | |
| ENST00000248633.8:c.3044A>C (PEX1) | ENSP00000248633.4:p.Glu1015Ala | |
| ENST00000428214.5:c.2873A>C (PEX1) | ENSP00000394413.1:p.Glu958Ala | |
| ENST00000438045.5:c.2078A>C (PEX1) | ENSP00000410438.1:p.Glu693Ala | |
| ENST00000484913.5:n.3083A>C (PEX1) | ||
| ENST00000496420.5:n.4099A>C (PEX1) | ||
| NM_000466.2:c.3044A>C (PEX1) | NP_000457.1:p.Glu1015Ala | |
| NM_001282677.1:c.2873A>C (PEX1) | NP_001269606.1:p.Glu958Ala | |
| NM_001282678.1:c.2420A>C (PEX1) | NP_001269607.1:p.Glu807Ala | |
| XM_005250433.3:c.1295A>C (PEX1) | XP_005250490.1:p.Glu432Ala | |
| XR_242246.3:n.3140A>C (PEX1) | ||
| XM_017012319.2:c.1295A>C (PEX1) | XP_016867808.1:p.Glu432Ala | |
| XR_001744808.2:n.2071A>C (PEX1) | ||
| XR_001744842.2:n.4154T>G (GATAD1) | ||
| XR_001744843.2:n.4085T>G (GATAD1) | ||
| XR_002956472.1:n.4211T>G (GATAD1) | ||
| XR_002956473.1:n.4242T>G (GATAD1) | ||
| XR_002956474.1:n.4159T>G (GATAD1) | ||
| XR_242246.5:n.3091A>C (PEX1) | ||
| XR_927494.3:n.2936T>G (GATAD1) | ||
| XR_927500.3:n.2933T>G (GATAD1) | ||
| XR_927503.3:n.2867T>G (GATAD1) | ||
| NM_000466.3:c.3044A>C (PEX1) MANE Select | NP_000457.1:p.Glu1015Ala | |
| NM_001282677.2:c.2873A>C (PEX1) | NP_001269606.1:p.Glu958Ala | |
| NM_001282678.2:c.2420A>C (PEX1) | NP_001269607.1:p.Glu807Ala |