Canonical Allele Identifier: CA915947325
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 827358
ClinVar RCV Id: RCV001026996
dbSNP Id: rs1217530014
gnomAD v4: 10-87863674-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863674C>A , CM000672.2:g.87863674C>A GRCh38
NC_000010.10:g.89623431C>A , CM000672.1:g.89623431C>A GRCh37
NC_000010.9:g.89613411C>A NCBI36
NG_007466.2:g.5237C>A , LRG_311:g.5237C>A
NG_033079.1:g.4764G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-796C>A ENSP00000514759.2:n.-796C>A
ENST00000710265.1:c.-796C>A ENSP00000518161.1:n.-796C>A
ENST00000706954.1:c.-16-780C>A ENSP00000516674.1:n.-16-780C>A
ENST00000706955.1:c.-796C>A ENSP00000516675.1:n.-796C>A
ENST00000688158.1:c.-796C>A ENSP00000509254.1:n.-796C>A
ENST00000688308.1:c.-17+561C>A ENSP00000508752.1:n.-17+561C>A
ENST00000693560.1:c.-276C>A ENSP00000509861.1:n.-276C>A
ENST00000371953.8:c.-796C>A MANE Select ENSP00000361021.3:n.-796C>A
ENST00000371953.7:c.-796C>A ENSP00000361021.3:n.-796C>A
ENST00000610634.1:c.-898C>A ENSP00000477517.1:n.-898C>A
NM_000314.5:c.-795C>A NP_000305.3:n.-795C>A
NM_000314.6:c.-795C>A NP_000305.3:n.-795C>A
NM_001304717.2:c.-276C>A NP_001291646.2:n.-276C>A
NM_001304718.1:c.-1500C>A NP_001291647.1:n.-1500C>A
NM_000314.7:c.-795C>A NP_000305.3:n.-795C>A
NM_001304717.5:c.-276C>A NP_001291646.4:n.-276C>A
NM_001304718.2:c.-1500C>A NP_001291647.1:n.-1500C>A
NM_000314.8:c.-796C>A MANE Select NP_000305.3:n.-796C>A
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