Canonical Allele Identifier: CA000644

Linked Data

ClinVar Variation Id: 127682
dbSNP Id: rs587779999

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