Linked Data
ClinVar Variation Id:
127676
dbSNP Id:
rs587779994
gnomAD v2:
10-89623392-C-T
gnomAD v3:
10-87863635-C-T
gnomAD v4:
10-87863635-C-T
ERepo:
CA000602/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863635C>T , CM000672.2:g.87863635C>T | GRCh38 |
| NC_000010.10:g.89623392C>T , CM000672.1:g.89623392C>T | GRCh37 |
| NC_000010.9:g.89613372C>T | NCBI36 |
| NG_007466.2:g.5198C>T , LRG_311:g.5198C>T | |
| NG_033079.1:g.4803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-835C>T (PTEN) | ENSP00000514759.2:n.-835C>T | |
| ENST00000710265.1:c.-835C>T (PTEN) | ENSP00000518161.1:n.-835C>T | |
| ENST00000706954.1:c.-16-819C>T (PTEN) | ENSP00000516674.1:n.-16-819C>T | |
| ENST00000706955.1:c.-835C>T (PTEN) | ENSP00000516675.1:n.-835C>T | |
| ENST00000688158.1:c.-835C>T (PTEN) | ENSP00000509254.1:n.-835C>T | |
| ENST00000688308.1:c.-17+522C>T (PTEN) | ENSP00000508752.1:n.-17+522C>T | |
| ENST00000692337.1:c.77C>T (MLDHR) | ENSP00000509326.1:p.Ser26Phe | |
| ENST00000693560.1:c.-315C>T (PTEN) | ENSP00000509861.1:n.-315C>T | |
| ENST00000371953.8:c.-835C>T (PTEN) MANE Select | ENSP00000361021.3:n.-835C>T | |
| ENST00000371953.7:c.-835C>T (PTEN) | ENSP00000361021.3:n.-835C>T | |
| ENST00000610634.1:c.-937C>T (PTEN) | ENSP00000477517.1:n.-937C>T | |
| NM_000314.5:c.-834C>T (PTEN) | NP_000305.3:n.-834C>T | |
| NM_000314.6:c.-834C>T (PTEN) | NP_000305.3:n.-834C>T | |
| NM_001304717.2:c.-315C>T (PTEN) | NP_001291646.2:n.-315C>T | |
| NM_001304718.1:c.-1539C>T (PTEN) | NP_001291647.1:n.-1539C>T | |
| NM_000314.7:c.-834C>T (PTEN) | NP_000305.3:n.-834C>T | |
| NM_001304717.5:c.-315C>T (PTEN) | NP_001291646.4:n.-315C>T | |
| NM_001304718.2:c.-1539C>T (PTEN) | NP_001291647.1:n.-1539C>T | |
| NM_000314.8:c.-835C>T (PTEN) MANE Select | NP_000305.3:n.-835C>T |