Linked Data
ClinVar Variation Id:
879907
ClinVar RCV Id:
RCV001107803
dbSNP Id:
rs759235360
ExAC:
10:72358885 C / T
gnomAD v2:
10-72358885-C-T
gnomAD v3:
10-70599129-C-T
gnomAD v4:
10-70599129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70599129C>T , CM000672.2:g.70599129C>T | GRCh38 |
| NC_000010.10:g.72358885C>T , CM000672.1:g.72358885C>T | GRCh37 |
| NC_000010.9:g.72028891C>T | NCBI36 |
| NG_009615.1:g.8647G>A , LRG_94:g.8647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.*17+45C>T (PALD1) | ENSP00000513342.1:n.*17+45C>T | |
| ENST00000697572.1:c.2250+34610C>T (PALD1) | ENSP00000513343.1:n.2250+34610C>T | |
| ENST00000697573.1:c.*17+45C>T (PALD1) | ENSP00000513344.1:n.*17+45C>T | |
| ENST00000697577.1:n.2919+45C>T (PALD1) | ||
| ENST00000697578.1:n.2763+45C>T (PALD1) | ||
| ENST00000441259.2:c.592G>A (PRF1) MANE Select | ENSP00000398568.1:p.Gly198Arg | |
| ENST00000638674.1:c.539+1235G>A (PRF1) | ENSP00000492048.1:n.539+1235G>A | |
| ENST00000639390.1:n.98-1288G>A (PRF1) | ||
| ENST00000373209.2:c.592G>A (PRF1) | ENSP00000362305.1:p.Gly198Arg | |
| ENST00000441259.1:c.592G>A (PRF1) | ENSP00000398568.1:p.Gly198Arg | |
| NM_001083116.1:c.592G>A , LRG_94t1:c.592G>A (PRF1) | NP_001076585.1:p.Gly198Arg | |
| NM_005041.4:c.592G>A (PRF1) | NP_005032.2:p.Gly198Arg | |
| NM_001083116.2:c.592G>A (PRF1) | NP_001076585.1:p.Gly198Arg | |
| NM_005041.5:c.592G>A (PRF1) | NP_005032.2:p.Gly198Arg | |
| NM_001083116.3:c.592G>A (PRF1) MANE Select | NP_001076585.1:p.Gly198Arg | |
| NM_005041.6:c.592G>A (PRF1) | NP_005032.2:p.Gly198Arg |