Linked Data
ClinVar Variation Id:
2714363
ClinVar RCV Id:
RCV003513818
dbSNP Id:
rs1402212883
gnomAD v2:
10-72358154-G-A
gnomAD v4:
10-70598398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598398G>A , CM000672.2:g.70598398G>A | GRCh38 |
| NC_000010.10:g.72358154G>A , CM000672.1:g.72358154G>A | GRCh37 |
| NC_000010.9:g.72028160G>A | NCBI36 |
| NG_009615.1:g.9378C>T , LRG_94:g.9378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2419-490G>A (PALD1) | ENSP00000513342.1:n.2419-490G>A | |
| ENST00000697572.1:c.2250+33879G>A (PALD1) | ENSP00000513343.1:n.2250+33879G>A | |
| ENST00000697573.1:c.2263-490G>A (PALD1) | ENSP00000513344.1:n.2263-490G>A | |
| ENST00000697577.1:n.2723-490G>A (PALD1) | ||
| ENST00000697578.1:n.2567-490G>A (PALD1) | ||
| ENST00000441259.2:c.1323C>T (PRF1) MANE Select | ENSP00000398568.1:p.Leu441= | |
| ENST00000638674.1:c.540-557C>T (PRF1) | ENSP00000492048.1:n.540-557C>T | |
| ENST00000639390.1:n.98-557C>T (PRF1) | ||
| ENST00000373209.2:c.1323C>T (PRF1) | ENSP00000362305.1:p.Leu441= | |
| ENST00000441259.1:c.1323C>T (PRF1) | ENSP00000398568.1:p.Leu441= | |
| NM_001083116.1:c.1323C>T , LRG_94t1:c.1323C>T (PRF1) | NP_001076585.1:p.Leu441= | |
| NM_005041.4:c.1323C>T (PRF1) | NP_005032.2:p.Leu441= | |
| NM_001083116.2:c.1323C>T (PRF1) | NP_001076585.1:p.Leu441= | |
| NM_005041.5:c.1323C>T (PRF1) | NP_005032.2:p.Leu441= | |
| NM_001083116.3:c.1323C>T (PRF1) MANE Select | NP_001076585.1:p.Leu441= | |
| NM_005041.6:c.1323C>T (PRF1) | NP_005032.2:p.Leu441= |