Linked Data
ClinVar Variation Id:
468299
ClinVar RCV Id:
RCV000558565
dbSNP Id:
rs753751595
ExAC:
10:72358258 A / C
gnomAD v2:
10-72358258-A-C
gnomAD v4:
10-70598502-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598502A>C , CM000672.2:g.70598502A>C | GRCh38 |
| NC_000010.10:g.72358258A>C , CM000672.1:g.72358258A>C | GRCh37 |
| NC_000010.9:g.72028264A>C | NCBI36 |
| NG_009615.1:g.9274T>G , LRG_94:g.9274T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697571.1:c.2419-386A>C (PALD1) | ENSP00000513342.1:n.2419-386A>C | |
| ENST00000697572.1:c.2250+33983A>C (PALD1) | ENSP00000513343.1:n.2250+33983A>C | |
| ENST00000697573.1:c.2263-386A>C (PALD1) | ENSP00000513344.1:n.2263-386A>C | |
| ENST00000697577.1:n.2723-386A>C (PALD1) | ||
| ENST00000697578.1:n.2567-386A>C (PALD1) | ||
| ENST00000441259.2:c.1219T>G (PRF1) MANE Select | ENSP00000398568.1:p.Cys407Gly | |
| ENST00000638674.1:c.540-661T>G (PRF1) | ENSP00000492048.1:n.540-661T>G | |
| ENST00000639390.1:n.98-661T>G (PRF1) | ||
| ENST00000373209.2:c.1219T>G (PRF1) | ENSP00000362305.1:p.Cys407Gly | |
| ENST00000441259.1:c.1219T>G (PRF1) | ENSP00000398568.1:p.Cys407Gly | |
| NM_001083116.1:c.1219T>G , LRG_94t1:c.1219T>G (PRF1) | NP_001076585.1:p.Cys407Gly | |
| NM_005041.4:c.1219T>G (PRF1) | NP_005032.2:p.Cys407Gly | |
| NM_001083116.2:c.1219T>G (PRF1) | NP_001076585.1:p.Cys407Gly | |
| NM_005041.5:c.1219T>G (PRF1) | NP_005032.2:p.Cys407Gly | |
| NM_001083116.3:c.1219T>G (PRF1) MANE Select | NP_001076585.1:p.Cys407Gly | |
| NM_005041.6:c.1219T>G (PRF1) | NP_005032.2:p.Cys407Gly |