Linked Data
ClinVar Variation Id:
300316
ClinVar RCV Id:
RCV000272788
dbSNP Id:
rs193221010
gnomAD v2:
10-72357288-G-T
gnomAD v3:
10-70597532-G-T
gnomAD v4:
10-70597532-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70597532G>T , CM000672.2:g.70597532G>T | GRCh38 |
| NC_000010.10:g.72357288G>T , CM000672.1:g.72357288G>T | GRCh37 |
| NC_000010.9:g.72027294G>T | NCBI36 |
| NG_009615.1:g.10244C>A , LRG_94:g.10244C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2419-1356G>T (PALD1) | ENSP00000513342.1:n.2419-1356G>T | |
| ENST00000697572.1:c.2250+33013G>T (PALD1) | ENSP00000513343.1:n.2250+33013G>T | |
| ENST00000697573.1:c.2263-1356G>T (PALD1) | ENSP00000513344.1:n.2263-1356G>T | |
| ENST00000697577.1:n.2723-1356G>T (PALD1) | ||
| ENST00000697578.1:n.2567-1356G>T (PALD1) | ||
| ENST00000441259.2:c.*521C>A (PRF1) MANE Select | ENSP00000398568.1:n.*521C>A | |
| ENST00000638674.1:c.*150C>A (PRF1) | ENSP00000492048.1:n.*150C>A | |
| ENST00000639390.1:n.407C>A (PRF1) | ||
| ENST00000373209.2:c.*521C>A (PRF1) | ENSP00000362305.1:n.*521C>A | |
| ENST00000441259.1:c.*521C>A (PRF1) | ENSP00000398568.1:n.*521C>A | |
| NM_001083116.1:c.*521C>A , LRG_94t1:c.*521C>A (PRF1) | NP_001076585.1:n.*521C>A | |
| NM_005041.4:c.*521C>A (PRF1) | NP_005032.2:n.*521C>A | |
| NM_001083116.2:c.*521C>A (PRF1) | NP_001076585.1:n.*521C>A | |
| NM_005041.5:c.*521C>A (PRF1) | NP_005032.2:n.*521C>A | |
| NM_001083116.3:c.*521C>A (PRF1) MANE Select | NP_001076585.1:n.*521C>A | |
| NM_005041.6:c.*521C>A (PRF1) | NP_005032.2:n.*521C>A |