Canonical Allele Identifier: CA000631

Linked Data

ClinVar Variation Id: 127681
dbSNP Id: rs550385924

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863560T>C , CM000672.2:g.87863560T>C GRCh38
NC_000010.10:g.89623317T>C , CM000672.1:g.89623317T>C GRCh37
NC_000010.9:g.89613297T>C NCBI36
NG_007466.2:g.5123T>C , LRG_311:g.5123T>C
NG_033079.1:g.4878A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-894T>C (PTEN) ENSP00000516674.1:n.-16-894T>C
ENST00000688308.1:c.-17+447T>C (PTEN) ENSP00000508752.1:n.-17+447T>C
ENST00000692337.1:c.2T>C (MLDHR) ENSP00000509326.1:p.Met1Thr
ENST00000693560.1:c.-390T>C (PTEN) ENSP00000509861.1:n.-390T>C
ENST00000371953.7:c.-910T>C (PTEN) ENSP00000361021.3:n.-910T>C
ENST00000610634.1:c.-1012T>C (PTEN) ENSP00000477517.1:n.-1012T>C
NM_000314.5:c.-909T>C (PTEN) NP_000305.3:n.-909T>C
NM_000314.6:c.-909T>C (PTEN) NP_000305.3:n.-909T>C
NM_001304717.2:c.-390T>C (PTEN) NP_001291646.2:n.-390T>C
NM_001304718.1:c.-1614T>C (PTEN) NP_001291647.1:n.-1614T>C