Linked Data
ClinVar Variation Id:
838508
dbSNP Id:
rs148237800
ExAC:
10:72358591 A / G
gnomAD v2:
10-72358591-A-G
gnomAD v3:
10-70598835-A-G
gnomAD v4:
10-70598835-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598835A>G , CM000672.2:g.70598835A>G | GRCh38 |
| NC_000010.10:g.72358591A>G , CM000672.1:g.72358591A>G | GRCh37 |
| NC_000010.9:g.72028597A>G | NCBI36 |
| NG_009615.1:g.8941T>C , LRG_94:g.8941T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2419-53A>G (PALD1) | ENSP00000513342.1:n.2419-53A>G | |
| ENST00000697572.1:c.2250+34316A>G (PALD1) | ENSP00000513343.1:n.2250+34316A>G | |
| ENST00000697573.1:c.2263-53A>G (PALD1) | ENSP00000513344.1:n.2263-53A>G | |
| ENST00000697577.1:n.2723-53A>G (PALD1) | ||
| ENST00000697578.1:n.2567-53A>G (PALD1) | ||
| ENST00000441259.2:c.886T>C (PRF1) MANE Select | ENSP00000398568.1:p.Tyr296His | |
| ENST00000638674.1:c.540-994T>C (PRF1) | ENSP00000492048.1:n.540-994T>C | |
| ENST00000639390.1:n.98-994T>C (PRF1) | ||
| ENST00000373209.2:c.886T>C (PRF1) | ENSP00000362305.1:p.Tyr296His | |
| ENST00000441259.1:c.886T>C (PRF1) | ENSP00000398568.1:p.Tyr296His | |
| NM_001083116.1:c.886T>C , LRG_94t1:c.886T>C (PRF1) | NP_001076585.1:p.Tyr296His | |
| NM_005041.4:c.886T>C (PRF1) | NP_005032.2:p.Tyr296His | |
| NM_001083116.2:c.886T>C (PRF1) | NP_001076585.1:p.Tyr296His | |
| NM_005041.5:c.886T>C (PRF1) | NP_005032.2:p.Tyr296His | |
| NM_001083116.3:c.886T>C (PRF1) MANE Select | NP_001076585.1:p.Tyr296His | |
| NM_005041.6:c.886T>C (PRF1) | NP_005032.2:p.Tyr296His |