Linked Data
ClinVar Variation Id:
13715
ClinVar RCV Id:
RCV000014715
dbSNP Id:
rs104894183
PubMed:
PMID:10583959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70599173A>C , CM000672.2:g.70599173A>C | GRCh38 |
| NC_000010.10:g.72358929A>C , CM000672.1:g.72358929A>C | GRCh37 |
| NC_000010.9:g.72028935A>C | NCBI36 |
| NG_009615.1:g.8603T>G , LRG_94:g.8603T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697571.1:c.*17+89A>C (PALD1) | ENSP00000513342.1:n.*17+89A>C | |
| ENST00000697572.1:c.2250+34654A>C (PALD1) | ENSP00000513343.1:n.2250+34654A>C | |
| ENST00000697573.1:c.*17+89A>C (PALD1) | ENSP00000513344.1:n.*17+89A>C | |
| ENST00000697577.1:n.2919+89A>C (PALD1) | ||
| ENST00000697578.1:n.2763+89A>C (PALD1) | ||
| ENST00000441259.2:c.548T>G (PRF1) MANE Select | ENSP00000398568.1:p.Val183Gly | |
| ENST00000638674.1:c.539+1191T>G (PRF1) | ENSP00000492048.1:n.539+1191T>G | |
| ENST00000639390.1:n.98-1332T>G (PRF1) | ||
| ENST00000373209.2:c.548T>G (PRF1) | ENSP00000362305.1:p.Val183Gly | |
| ENST00000441259.1:c.548T>G (PRF1) | ENSP00000398568.1:p.Val183Gly | |
| NM_001083116.1:c.548T>G , LRG_94t1:c.548T>G (PRF1) | NP_001076585.1:p.Val183Gly | |
| NM_005041.4:c.548T>G (PRF1) | NP_005032.2:p.Val183Gly | |
| NM_001083116.2:c.548T>G (PRF1) | NP_001076585.1:p.Val183Gly | |
| NM_005041.5:c.548T>G (PRF1) | NP_005032.2:p.Val183Gly | |
| NM_001083116.3:c.548T>G (PRF1) MANE Select | NP_001076585.1:p.Val183Gly | |
| NM_005041.6:c.548T>G (PRF1) | NP_005032.2:p.Val183Gly |