Canonical Allele Identifier: CA915947313
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 823136
ClinVar RCV Id: RCV001019097
dbSNP Id: rs1554889925

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863544G>C , CM000672.2:g.87863544G>C GRCh38
NC_000010.10:g.89623301G>C , CM000672.1:g.89623301G>C GRCh37
NC_000010.9:g.89613281G>C NCBI36
NG_007466.2:g.5107G>C , LRG_311:g.5107G>C
NG_033079.1:g.4894C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+902G>C ENSP00000516674.1:n.-17+902G>C
ENST00000688308.1:c.-17+431G>C ENSP00000508752.1:n.-17+431G>C
ENST00000693560.1:c.-406G>C ENSP00000509861.1:n.-406G>C
ENST00000371953.7:c.-926G>C ENSP00000361021.3:n.-926G>C
ENST00000610634.1:c.-1028G>C ENSP00000477517.1:n.-1028G>C
NM_000314.5:c.-925G>C NP_000305.3:n.-925G>C
NM_000314.6:c.-925G>C NP_000305.3:n.-925G>C
NM_001304717.2:c.-406G>C NP_001291646.2:n.-406G>C
NM_001304718.1:c.-1630G>C NP_001291647.1:n.-1630G>C