Linked Data
dbSNP Id:
rs746889280
ExAC:
10:72358699 C / G
gnomAD v2:
10-72358699-C-G
gnomAD v4:
10-70598943-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598943C>G , CM000672.2:g.70598943C>G | GRCh38 |
| NC_000010.10:g.72358699C>G , CM000672.1:g.72358699C>G | GRCh37 |
| NC_000010.9:g.72028705C>G | NCBI36 |
| NG_009615.1:g.8833G>C , LRG_94:g.8833G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2474C>G (PALD1) | ENSP00000513342.1:p.Thr825Arg | |
| ENST00000697572.1:c.2250+34424C>G (PALD1) | ENSP00000513343.1:n.2250+34424C>G | |
| ENST00000697573.1:c.2318C>G (PALD1) | ENSP00000513344.1:p.Thr773Arg | |
| ENST00000697577.1:n.2778C>G (PALD1) | ||
| ENST00000697578.1:n.2622C>G (PALD1) | ||
| ENST00000441259.2:c.778G>C (PRF1) MANE Select | ENSP00000398568.1:p.Val260Leu | |
| ENST00000638674.1:c.540-1102G>C (PRF1) | ENSP00000492048.1:n.540-1102G>C | |
| ENST00000639390.1:n.98-1102G>C (PRF1) | ||
| ENST00000373209.2:c.778G>C (PRF1) | ENSP00000362305.1:p.Val260Leu | |
| ENST00000441259.1:c.778G>C (PRF1) | ENSP00000398568.1:p.Val260Leu | |
| NM_001083116.1:c.778G>C , LRG_94t1:c.778G>C (PRF1) | NP_001076585.1:p.Val260Leu | |
| NM_005041.4:c.778G>C (PRF1) | NP_005032.2:p.Val260Leu | |
| NM_001083116.2:c.778G>C (PRF1) | NP_001076585.1:p.Val260Leu | |
| NM_005041.5:c.778G>C (PRF1) | NP_005032.2:p.Val260Leu | |
| NM_001083116.3:c.778G>C (PRF1) MANE Select | NP_001076585.1:p.Val260Leu | |
| NM_005041.6:c.778G>C (PRF1) | NP_005032.2:p.Val260Leu |