Linked Data
ClinVar Variation Id:
127682
dbSNP Id:
rs587779999
gnomAD v2:
10-89623283-C-T
gnomAD v3:
10-87863526-C-T
gnomAD v4:
10-87863526-C-T
ERepo:
CA000644/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863526C>T , CM000672.2:g.87863526C>T | GRCh38 |
| NC_000010.10:g.89623283C>T , CM000672.1:g.89623283C>T | GRCh37 |
| NC_000010.9:g.89613263C>T | NCBI36 |
| NG_007466.2:g.5089C>T , LRG_311:g.5089C>T | |
| NG_033079.1:g.4912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+884C>T (PTEN) | ENSP00000516674.1:n.-17+884C>T | |
| ENST00000688308.1:c.-17+413C>T (PTEN) | ENSP00000508752.1:n.-17+413C>T | |
| ENST00000693560.1:c.-424C>T (PTEN) | ENSP00000509861.1:n.-424C>T | |
| ENST00000445946.5:c.-1039G>A (KLLN) MANE Select | ENSP00000392204.2:n.-1039G>A | |
| ENST00000371953.7:c.-944C>T (PTEN) | ENSP00000361021.3:n.-944C>T | |
| ENST00000610634.1:c.-1046C>T (PTEN) | ENSP00000477517.1:n.-1046C>T | |
| NM_000314.5:c.-943C>T (PTEN) | NP_000305.3:n.-943C>T | |
| NM_000314.6:c.-943C>T (PTEN) | NP_000305.3:n.-943C>T | |
| NM_001304717.2:c.-424C>T (PTEN) | NP_001291646.2:n.-424C>T | |
| NM_001304718.1:c.-1648C>T (PTEN) | NP_001291647.1:n.-1648C>T | |
| NM_001126049.2:c.-1039G>A (KLLN) MANE Select | NP_001119521.1:n.-1039G>A |