Linked Data
ClinVar Variation Id:
127685
dbSNP Id:
rs587780001
gnomAD v2:
10-89623251-G-C
gnomAD v3:
10-87863494-G-C
gnomAD v4:
10-87863494-G-C
ERepo:
CA000654/MONDO:0017623/003
PubMed:
PMID:25669429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863494G>C , CM000672.2:g.87863494G>C | GRCh38 |
| NC_000010.10:g.89623251G>C , CM000672.1:g.89623251G>C | GRCh37 |
| NC_000010.9:g.89613231G>C | NCBI36 |
| NG_007466.2:g.5057G>C , LRG_311:g.5057G>C | |
| NG_033079.1:g.4944C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+852G>C (PTEN) | ENSP00000516674.1:n.-17+852G>C | |
| ENST00000688308.1:c.-17+381G>C (PTEN) | ENSP00000508752.1:n.-17+381G>C | |
| ENST00000693560.1:c.-456G>C (PTEN) | ENSP00000509861.1:n.-456G>C | |
| ENST00000445946.5:c.-1007C>G (KLLN) MANE Select | ENSP00000392204.2:n.-1007C>G | |
| ENST00000371953.7:c.-976G>C (PTEN) | ENSP00000361021.3:n.-976G>C | |
| ENST00000610634.1:c.-1078G>C (PTEN) | ENSP00000477517.1:n.-1078G>C | |
| NM_000314.5:c.-975G>C (PTEN) | NP_000305.3:n.-975G>C | |
| NM_000314.6:c.-975G>C (PTEN) | NP_000305.3:n.-975G>C | |
| NM_001304717.2:c.-456G>C (PTEN) | NP_001291646.2:n.-456G>C | |
| NM_001304718.1:c.-1680G>C (PTEN) | NP_001291647.1:n.-1680G>C | |
| NM_001126049.2:c.-1007C>G (KLLN) MANE Select | NP_001119521.1:n.-1007C>G |