Linked Data
ClinVar Variation Id:
300330
ClinVar RCV Id:
RCV000395073
dbSNP Id:
rs886047109
gnomAD v4:
10-70598780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598780A>G , CM000672.2:g.70598780A>G | GRCh38 |
| NC_000010.10:g.72358536A>G , CM000672.1:g.72358536A>G | GRCh37 |
| NC_000010.9:g.72028542A>G | NCBI36 |
| NG_009615.1:g.8996T>C , LRG_94:g.8996T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2419-108A>G (PALD1) | ENSP00000513342.1:n.2419-108A>G | |
| ENST00000697572.1:c.2250+34261A>G (PALD1) | ENSP00000513343.1:n.2250+34261A>G | |
| ENST00000697573.1:c.2263-108A>G (PALD1) | ENSP00000513344.1:n.2263-108A>G | |
| ENST00000697577.1:n.2723-108A>G (PALD1) | ||
| ENST00000697578.1:n.2567-108A>G (PALD1) | ||
| ENST00000441259.2:c.941T>C (PRF1) MANE Select | ENSP00000398568.1:p.Leu314Pro | |
| ENST00000638674.1:c.540-939T>C (PRF1) | ENSP00000492048.1:n.540-939T>C | |
| ENST00000639390.1:n.98-939T>C (PRF1) | ||
| ENST00000373209.2:c.941T>C (PRF1) | ENSP00000362305.1:p.Leu314Pro | |
| ENST00000441259.1:c.941T>C (PRF1) | ENSP00000398568.1:p.Leu314Pro | |
| NM_001083116.1:c.941T>C , LRG_94t1:c.941T>C (PRF1) | NP_001076585.1:p.Leu314Pro | |
| NM_005041.4:c.941T>C (PRF1) | NP_005032.2:p.Leu314Pro | |
| NM_001083116.2:c.941T>C (PRF1) | NP_001076585.1:p.Leu314Pro | |
| NM_005041.5:c.941T>C (PRF1) | NP_005032.2:p.Leu314Pro | |
| NM_001083116.3:c.941T>C (PRF1) MANE Select | NP_001076585.1:p.Leu314Pro | |
| NM_005041.6:c.941T>C (PRF1) | NP_005032.2:p.Leu314Pro |