Linked Data
ClinVar Variation Id:
1204117
ClinVar RCV Id:
RCV001570378
dbSNP Id:
rs1442588781
gnomAD v4:
10-87863522-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863522G>A , CM000672.2:g.87863522G>A | GRCh38 |
| NC_000010.10:g.89623279G>A , CM000672.1:g.89623279G>A | GRCh37 |
| NC_000010.9:g.89613259G>A | NCBI36 |
| NG_007466.2:g.5085G>A , LRG_311:g.5085G>A | |
| NG_033079.1:g.4916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+880G>A (PTEN) | ENSP00000516674.1:n.-17+880G>A | |
| ENST00000688308.1:c.-17+409G>A (PTEN) | ENSP00000508752.1:n.-17+409G>A | |
| ENST00000693560.1:c.-428G>A (PTEN) | ENSP00000509861.1:n.-428G>A | |
| ENST00000445946.5:c.-1035C>T (KLLN) MANE Select | ENSP00000392204.2:n.-1035C>T | |
| ENST00000371953.7:c.-948G>A (PTEN) | ENSP00000361021.3:n.-948G>A | |
| ENST00000610634.1:c.-1050G>A (PTEN) | ENSP00000477517.1:n.-1050G>A | |
| NM_000314.5:c.-947G>A (PTEN) | NP_000305.3:n.-947G>A | |
| NM_000314.6:c.-947G>A (PTEN) | NP_000305.3:n.-947G>A | |
| NM_001304717.2:c.-428G>A (PTEN) | NP_001291646.2:n.-428G>A | |
| NM_001304718.1:c.-1652G>A (PTEN) | NP_001291647.1:n.-1652G>A | |
| NM_001126049.2:c.-1035C>T (KLLN) MANE Select | NP_001119521.1:n.-1035C>T |