Linked Data
ClinVar Variation Id:
2415200
ClinVar RCV Id:
RCV003110619
dbSNP Id:
rs1473909749
gnomAD v2:
10-72358650-G-A
gnomAD v3:
10-70598894-G-A
gnomAD v4:
10-70598894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598894G>A , CM000672.2:g.70598894G>A | GRCh38 |
| NC_000010.10:g.72358650G>A , CM000672.1:g.72358650G>A | GRCh37 |
| NC_000010.9:g.72028656G>A | NCBI36 |
| NG_009615.1:g.8882C>T , LRG_94:g.8882C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697571.1:c.2425G>A (PALD1) | ENSP00000513342.1:p.Ala809Thr | |
| ENST00000697572.1:c.2250+34375G>A (PALD1) | ENSP00000513343.1:n.2250+34375G>A | |
| ENST00000697573.1:c.2269G>A (PALD1) | ENSP00000513344.1:p.Ala757Thr | |
| ENST00000697577.1:n.2729G>A (PALD1) | ||
| ENST00000697578.1:n.2573G>A (PALD1) | ||
| ENST00000441259.2:c.827C>T (PRF1) MANE Select | ENSP00000398568.1:p.Ala276Val | |
| ENST00000638674.1:c.540-1053C>T (PRF1) | ENSP00000492048.1:n.540-1053C>T | |
| ENST00000639390.1:n.98-1053C>T (PRF1) | ||
| ENST00000373209.2:c.827C>T (PRF1) | ENSP00000362305.1:p.Ala276Val | |
| ENST00000441259.1:c.827C>T (PRF1) | ENSP00000398568.1:p.Ala276Val | |
| NM_001083116.1:c.827C>T , LRG_94t1:c.827C>T (PRF1) | NP_001076585.1:p.Ala276Val | |
| NM_005041.4:c.827C>T (PRF1) | NP_005032.2:p.Ala276Val | |
| NM_001083116.2:c.827C>T (PRF1) | NP_001076585.1:p.Ala276Val | |
| NM_005041.5:c.827C>T (PRF1) | NP_005032.2:p.Ala276Val | |
| NM_001083116.3:c.827C>T (PRF1) MANE Select | NP_001076585.1:p.Ala276Val | |
| NM_005041.6:c.827C>T (PRF1) | NP_005032.2:p.Ala276Val |