Linked Data
ClinVar Variation Id:
566088
dbSNP Id:
rs775966864
ExAC:
10:72358728 G / A
gnomAD v2:
10-72358728-G-A
gnomAD v3:
10-70598972-G-A
gnomAD v4:
10-70598972-G-A
COSMIC:
COSM3967135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598972G>A , CM000672.2:g.70598972G>A | GRCh38 |
| NC_000010.10:g.72358728G>A , CM000672.1:g.72358728G>A | GRCh37 |
| NC_000010.9:g.72028734G>A | NCBI36 |
| NG_009615.1:g.8804C>T , LRG_94:g.8804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2503G>A (PALD1) | ENSP00000513342.1:p.Val835Met | |
| ENST00000697572.1:c.2250+34453G>A (PALD1) | ENSP00000513343.1:n.2250+34453G>A | |
| ENST00000697573.1:c.2347G>A (PALD1) | ENSP00000513344.1:p.Val783Met | |
| ENST00000697577.1:n.2807G>A (PALD1) | ||
| ENST00000697578.1:n.2651G>A (PALD1) | ||
| ENST00000441259.2:c.749C>T (PRF1) MANE Select | ENSP00000398568.1:p.Thr250Met | |
| ENST00000638674.1:c.540-1131C>T (PRF1) | ENSP00000492048.1:n.540-1131C>T | |
| ENST00000639390.1:n.98-1131C>T (PRF1) | ||
| ENST00000373209.2:c.749C>T (PRF1) | ENSP00000362305.1:p.Thr250Met | |
| ENST00000441259.1:c.749C>T (PRF1) | ENSP00000398568.1:p.Thr250Met | |
| NM_001083116.1:c.749C>T , LRG_94t1:c.749C>T (PRF1) | NP_001076585.1:p.Thr250Met | |
| NM_005041.4:c.749C>T (PRF1) | NP_005032.2:p.Thr250Met | |
| NM_001083116.2:c.749C>T (PRF1) | NP_001076585.1:p.Thr250Met | |
| NM_005041.5:c.749C>T (PRF1) | NP_005032.2:p.Thr250Met | |
| NM_001083116.3:c.749C>T (PRF1) MANE Select | NP_001076585.1:p.Thr250Met | |
| NM_005041.6:c.749C>T (PRF1) | NP_005032.2:p.Thr250Met |