Linked Data
ClinVar Variation Id:
2074771
ClinVar RCV Id:
RCV002982311
dbSNP Id:
rs144649949
ExAC:
7:92123848 A / G
gnomAD v2:
7-92123848-A-G
gnomAD v3:
7-92494534-A-G
gnomAD v4:
7-92494534-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494534A>G , CM000669.2:g.92494534A>G | GRCh38 |
| NC_000007.13:g.92123848A>G , CM000669.1:g.92123848A>G | GRCh37 |
| NC_000007.12:g.91961784A>G | NCBI36 |
| NG_008341.1:g.38998T>C | |
| NG_008341.2:g.38998T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2879T>C (PEX1) MANE Select | ENSP00000248633.4:p.Val960Ala | |
| ENST00000248633.8:c.2879T>C (PEX1) | ENSP00000248633.4:p.Val960Ala | |
| ENST00000428214.5:c.2708T>C (PEX1) | ENSP00000394413.1:p.Val903Ala | |
| ENST00000438045.5:c.1913T>C (PEX1) | ENSP00000410438.1:p.Val638Ala | |
| ENST00000484913.5:n.2918T>C (PEX1) | ||
| ENST00000496420.5:n.2771T>C (PEX1) | ||
| NM_000466.2:c.2879T>C (PEX1) | NP_000457.1:p.Val960Ala | |
| NM_001282677.1:c.2708T>C (PEX1) | NP_001269606.1:p.Val903Ala | |
| NM_001282678.1:c.2255T>C (PEX1) | NP_001269607.1:p.Val752Ala | |
| XM_005250433.3:c.1130T>C (PEX1) | XP_005250490.1:p.Val377Ala | |
| XR_242246.3:n.2975T>C (PEX1) | ||
| XM_017012319.2:c.1130T>C (PEX1) | XP_016867808.1:p.Val377Ala | |
| XR_001744808.2:n.1906T>C (PEX1) | ||
| XR_001744843.2:n.5503A>G (GATAD1) | ||
| XR_242246.5:n.2926T>C (PEX1) | ||
| XR_927494.3:n.4354A>G (GATAD1) | ||
| XR_927503.3:n.4285A>G (GATAD1) | ||
| NM_000466.3:c.2879T>C (PEX1) MANE Select | NP_000457.1:p.Val960Ala | |
| NM_001282677.2:c.2708T>C (PEX1) | NP_001269606.1:p.Val903Ala | |
| NM_001282678.2:c.2255T>C (PEX1) | NP_001269607.1:p.Val752Ala |