Linked Data
ClinVar Variation Id:
1497236
ClinVar RCV Id:
RCV002019774
dbSNP Id:
rs139869362
ExAC:
7:92119179 G / C
gnomAD v3:
7-92489865-G-C
gnomAD v4:
7-92489865-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489865G>C , CM000669.2:g.92489865G>C | GRCh38 |
| NC_000007.13:g.92119179G>C , CM000669.1:g.92119179G>C | GRCh37 |
| NC_000007.12:g.91957115G>C | NCBI36 |
| NG_008341.1:g.43667C>G | |
| NG_008341.2:g.43667C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3485C>G (PEX1) MANE Select | ENSP00000248633.4:p.Pro1162Arg | |
| ENST00000248633.8:c.3485C>G (PEX1) | ENSP00000248633.4:p.Pro1162Arg | |
| ENST00000428214.5:c.3314C>G (PEX1) | ENSP00000394413.1:p.Pro1105Arg | |
| ENST00000438045.5:c.2519C>G (PEX1) | ENSP00000410438.1:p.Pro840Arg | |
| ENST00000469417.1:n.382C>G (PEX1) | ||
| ENST00000484913.5:n.3524C>G (PEX1) | ||
| ENST00000496420.5:n.4540C>G (PEX1) | ||
| NM_000466.2:c.3485C>G (PEX1) | NP_000457.1:p.Pro1162Arg | |
| NM_001282677.1:c.3314C>G (PEX1) | NP_001269606.1:p.Pro1105Arg | |
| NM_001282678.1:c.2861C>G (PEX1) | NP_001269607.1:p.Pro954Arg | |
| XM_005250433.3:c.1736C>G (PEX1) | XP_005250490.1:p.Pro579Arg | |
| XR_242246.3:n.3581C>G (PEX1) | ||
| XR_927494.1:n.1036-1378G>C (GATAD1) | ||
| XR_927495.1:n.1036-221G>C (GATAD1) | ||
| XR_927496.1:n.1041-1378G>C (GATAD1) | ||
| XR_927497.1:n.1036-221G>C (GATAD1) | ||
| XR_927498.1:n.1124-1378G>C (GATAD1) | ||
| XR_927500.1:n.1033-1378G>C (GATAD1) | ||
| XR_927502.1:n.1033-221G>C (GATAD1) | ||
| XR_927503.1:n.967-1378G>C (GATAD1) | ||
| XM_017012319.2:c.1736C>G (PEX1) | XP_016867808.1:p.Pro579Arg | |
| XR_001744808.2:n.2512C>G (PEX1) | ||
| XR_001744842.2:n.2281-1378G>C (GATAD1) | ||
| XR_001744843.2:n.2212-1378G>C (GATAD1) | ||
| XR_002956472.1:n.2281-221G>C (GATAD1) | ||
| XR_002956473.1:n.2369-1378G>C (GATAD1) | ||
| XR_002956474.1:n.2286-1378G>C (GATAD1) | ||
| XR_242246.5:n.3532C>G (PEX1) | ||
| XR_927494.3:n.1063-1378G>C (GATAD1) | ||
| XR_927500.3:n.1060-1378G>C (GATAD1) | ||
| XR_927503.3:n.994-1378G>C (GATAD1) | ||
| NM_000466.3:c.3485C>G (PEX1) MANE Select | NP_000457.1:p.Pro1162Arg | |
| NM_001282677.2:c.3314C>G (PEX1) | NP_001269606.1:p.Pro1105Arg | |
| NM_001282678.2:c.2861C>G (PEX1) | NP_001269607.1:p.Pro954Arg |