Linked Data
ClinVar Variation Id:
13714
ClinVar RCV Id:
RCV000014714
dbSNP Id:
rs104894182
ExAC:
10:72358641 C / T
gnomAD v2:
10-72358641-C-T
gnomAD v4:
10-70598885-C-T
PubMed:
PMID:10583959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598885C>T , CM000672.2:g.70598885C>T | GRCh38 |
| NC_000010.10:g.72358641C>T , CM000672.1:g.72358641C>T | GRCh37 |
| NC_000010.9:g.72028647C>T | NCBI36 |
| NG_009615.1:g.8891G>A , LRG_94:g.8891G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697571.1:c.2419-3C>T (PALD1) | ENSP00000513342.1:n.2419-3C>T | |
| ENST00000697572.1:c.2250+34366C>T (PALD1) | ENSP00000513343.1:n.2250+34366C>T | |
| ENST00000697573.1:c.2263-3C>T (PALD1) | ENSP00000513344.1:n.2263-3C>T | |
| ENST00000697577.1:n.2723-3C>T (PALD1) | ||
| ENST00000697578.1:n.2567-3C>T (PALD1) | ||
| ENST00000441259.2:c.836G>A (PRF1) MANE Select | ENSP00000398568.1:p.Cys279Tyr | |
| ENST00000638674.1:c.540-1044G>A (PRF1) | ENSP00000492048.1:n.540-1044G>A | |
| ENST00000639390.1:n.98-1044G>A (PRF1) | ||
| ENST00000373209.2:c.836G>A (PRF1) | ENSP00000362305.1:p.Cys279Tyr | |
| ENST00000441259.1:c.836G>A (PRF1) | ENSP00000398568.1:p.Cys279Tyr | |
| NM_001083116.1:c.836G>A , LRG_94t1:c.836G>A (PRF1) | NP_001076585.1:p.Cys279Tyr | |
| NM_005041.4:c.836G>A (PRF1) | NP_005032.2:p.Cys279Tyr | |
| NM_001083116.2:c.836G>A (PRF1) | NP_001076585.1:p.Cys279Tyr | |
| NM_005041.5:c.836G>A (PRF1) | NP_005032.2:p.Cys279Tyr | |
| NM_001083116.3:c.836G>A (PRF1) MANE Select | NP_001076585.1:p.Cys279Tyr | |
| NM_005041.6:c.836G>A (PRF1) | NP_005032.2:p.Cys279Tyr |