Linked Data
ClinVar Variation Id:
13712
ClinVar RCV Id:
RCV000014712
dbSNP Id:
rs104894181
gnomAD v4:
10-70598435-C-T
PubMed:
PMID:10583959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598435C>T , CM000672.2:g.70598435C>T | GRCh38 |
| NC_000010.10:g.72358191C>T , CM000672.1:g.72358191C>T | GRCh37 |
| NC_000010.9:g.72028197C>T | NCBI36 |
| NG_009615.1:g.9341G>A , LRG_94:g.9341G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697571.1:c.2419-453C>T (PALD1) | ENSP00000513342.1:n.2419-453C>T | |
| ENST00000697572.1:c.2250+33916C>T (PALD1) | ENSP00000513343.1:n.2250+33916C>T | |
| ENST00000697573.1:c.2263-453C>T (PALD1) | ENSP00000513344.1:n.2263-453C>T | |
| ENST00000697577.1:n.2723-453C>T (PALD1) | ||
| ENST00000697578.1:n.2567-453C>T (PALD1) | ||
| ENST00000441259.2:c.1286G>A (PRF1) MANE Select | ENSP00000398568.1:p.Gly429Glu | |
| ENST00000638674.1:c.540-594G>A (PRF1) | ENSP00000492048.1:n.540-594G>A | |
| ENST00000639390.1:n.98-594G>A (PRF1) | ||
| ENST00000373209.2:c.1286G>A (PRF1) | ENSP00000362305.1:p.Gly429Glu | |
| ENST00000441259.1:c.1286G>A (PRF1) | ENSP00000398568.1:p.Gly429Glu | |
| NM_001083116.1:c.1286G>A , LRG_94t1:c.1286G>A (PRF1) | NP_001076585.1:p.Gly429Glu | |
| NM_005041.4:c.1286G>A (PRF1) | NP_005032.2:p.Gly429Glu | |
| NM_001083116.2:c.1286G>A (PRF1) | NP_001076585.1:p.Gly429Glu | |
| NM_005041.5:c.1286G>A (PRF1) | NP_005032.2:p.Gly429Glu | |
| NM_001083116.3:c.1286G>A (PRF1) MANE Select | NP_001076585.1:p.Gly429Glu | |
| NM_005041.6:c.1286G>A (PRF1) | NP_005032.2:p.Gly429Glu |