Linked Data
ClinVar Variation Id:
1461213
ClinVar RCV Id:
RCV001983271
dbSNP Id:
rs1367395648
gnomAD v2:
7-92123623-C-G
gnomAD v4:
7-92494309-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494309C>G , CM000669.2:g.92494309C>G | GRCh38 |
| NC_000007.13:g.92123623C>G , CM000669.1:g.92123623C>G | GRCh37 |
| NC_000007.12:g.91961559C>G | NCBI36 |
| NG_008341.1:g.39223G>C | |
| NG_008341.2:g.39223G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.3014G>C (PEX1) MANE Select | ENSP00000248633.4:p.Cys1005Ser | |
| ENST00000248633.8:c.3014G>C (PEX1) | ENSP00000248633.4:p.Cys1005Ser | |
| ENST00000428214.5:c.2843G>C (PEX1) | ENSP00000394413.1:p.Cys948Ser | |
| ENST00000438045.5:c.2048G>C (PEX1) | ENSP00000410438.1:p.Cys683Ser | |
| ENST00000484913.5:n.3053G>C (PEX1) | ||
| ENST00000496420.5:n.2906G>C (PEX1) | ||
| NM_000466.2:c.3014G>C (PEX1) | NP_000457.1:p.Cys1005Ser | |
| NM_001282677.1:c.2843G>C (PEX1) | NP_001269606.1:p.Cys948Ser | |
| NM_001282678.1:c.2390G>C (PEX1) | NP_001269607.1:p.Cys797Ser | |
| XM_005250433.3:c.1265G>C (PEX1) | XP_005250490.1:p.Cys422Ser | |
| XR_242246.3:n.3110G>C (PEX1) | ||
| XM_017012319.2:c.1265G>C (PEX1) | XP_016867808.1:p.Cys422Ser | |
| XR_001744808.2:n.2041G>C (PEX1) | ||
| XR_001744843.2:n.5278C>G (GATAD1) | ||
| XR_242246.5:n.3061G>C (PEX1) | ||
| XR_927494.3:n.4129C>G (GATAD1) | ||
| XR_927503.3:n.4060C>G (GATAD1) | ||
| NM_000466.3:c.3014G>C (PEX1) MANE Select | NP_000457.1:p.Cys1005Ser | |
| NM_001282677.2:c.2843G>C (PEX1) | NP_001269606.1:p.Cys948Ser | |
| NM_001282678.2:c.2390G>C (PEX1) | NP_001269607.1:p.Cys797Ser |