Linked Data
ClinVar Variation Id:
2193735
ClinVar RCV Id:
RCV002647227
dbSNP Id:
rs762012895
ExAC:
7:92123664 A / G
gnomAD v2:
7-92123664-A-G
gnomAD v3:
7-92494350-A-G
gnomAD v4:
7-92494350-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494350A>G , CM000669.2:g.92494350A>G | GRCh38 |
| NC_000007.13:g.92123664A>G , CM000669.1:g.92123664A>G | GRCh37 |
| NC_000007.12:g.91961600A>G | NCBI36 |
| NG_008341.1:g.39182T>C | |
| NG_008341.2:g.39182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2973T>C (PEX1) MANE Select | ENSP00000248633.4:p.Pro991= | |
| ENST00000248633.8:c.2973T>C (PEX1) | ENSP00000248633.4:p.Pro991= | |
| ENST00000428214.5:c.2802T>C (PEX1) | ENSP00000394413.1:p.Pro934= | |
| ENST00000438045.5:c.2007T>C (PEX1) | ENSP00000410438.1:p.Pro669= | |
| ENST00000484913.5:n.3012T>C (PEX1) | ||
| ENST00000496420.5:n.2865T>C (PEX1) | ||
| NM_000466.2:c.2973T>C (PEX1) | NP_000457.1:p.Pro991= | |
| NM_001282677.1:c.2802T>C (PEX1) | NP_001269606.1:p.Pro934= | |
| NM_001282678.1:c.2349T>C (PEX1) | NP_001269607.1:p.Pro783= | |
| XM_005250433.3:c.1224T>C (PEX1) | XP_005250490.1:p.Pro408= | |
| XR_242246.3:n.3069T>C (PEX1) | ||
| XM_017012319.2:c.1224T>C (PEX1) | XP_016867808.1:p.Pro408= | |
| XR_001744808.2:n.2000T>C (PEX1) | ||
| XR_001744843.2:n.5319A>G (GATAD1) | ||
| XR_242246.5:n.3020T>C (PEX1) | ||
| XR_927494.3:n.4170A>G (GATAD1) | ||
| XR_927503.3:n.4101A>G (GATAD1) | ||
| NM_000466.3:c.2973T>C (PEX1) MANE Select | NP_000457.1:p.Pro991= | |
| NM_001282677.2:c.2802T>C (PEX1) | NP_001269606.1:p.Pro934= | |
| NM_001282678.2:c.2349T>C (PEX1) | NP_001269607.1:p.Pro783= |