Linked Data
ClinVar Variation Id:
1087445
ClinVar RCV Id:
RCV001405563
dbSNP Id:
rs372197553
ExAC:
7:92123588 C / G
gnomAD v2:
7-92123588-C-G
gnomAD v3:
7-92494274-C-G
gnomAD v4:
7-92494274-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494274C>G , CM000669.2:g.92494274C>G | GRCh38 |
| NC_000007.13:g.92123588C>G , CM000669.1:g.92123588C>G | GRCh37 |
| NC_000007.12:g.91961524C>G | NCBI36 |
| NG_008341.1:g.39258G>C | |
| NG_008341.2:g.39258G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3030+19G>C (PEX1) MANE Select | ENSP00000248633.4:n.3030+19G>C | |
| ENST00000248633.8:c.3030+19G>C (PEX1) | ENSP00000248633.4:n.3030+19G>C | |
| ENST00000428214.5:c.2859+19G>C (PEX1) | ENSP00000394413.1:n.2859+19G>C | |
| ENST00000438045.5:c.2064+19G>C (PEX1) | ENSP00000410438.1:n.2064+19G>C | |
| ENST00000484913.5:n.3069+19G>C (PEX1) | ||
| ENST00000496420.5:n.2941G>C (PEX1) | ||
| NM_000466.2:c.3030+19G>C (PEX1) | NP_000457.1:n.3030+19G>C | |
| NM_001282677.1:c.2859+19G>C (PEX1) | NP_001269606.1:n.2859+19G>C | |
| NM_001282678.1:c.2406+19G>C (PEX1) | NP_001269607.1:n.2406+19G>C | |
| XM_005250433.3:c.1281+19G>C (PEX1) | XP_005250490.1:n.1281+19G>C | |
| XR_242246.3:n.3126+19G>C (PEX1) | ||
| XM_017012319.2:c.1281+19G>C (PEX1) | XP_016867808.1:n.1281+19G>C | |
| XR_001744808.2:n.2057+19G>C (PEX1) | ||
| XR_001744843.2:n.5243C>G (GATAD1) | ||
| XR_242246.5:n.3077+19G>C (PEX1) | ||
| XR_927494.3:n.4094C>G (GATAD1) | ||
| XR_927503.3:n.4025C>G (GATAD1) | ||
| NM_000466.3:c.3030+19G>C (PEX1) MANE Select | NP_000457.1:n.3030+19G>C | |
| NM_001282677.2:c.2859+19G>C (PEX1) | NP_001269606.1:n.2859+19G>C | |
| NM_001282678.2:c.2406+19G>C (PEX1) | NP_001269607.1:n.2406+19G>C |