Canonical Allele Identifier: CA000579
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189498
ClinVar RCV Id: RCV000169888
dbSNP Id: rs786204941
gnomAD v3: 10-87863673-G-T
gnomAD v4: 10-87863673-G-T
MyVariant Identifiers: chr10:g.89623430G>T (hg19) chr10:g.87863673G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863673G>T , CM000672.2:g.87863673G>T GRCh38
NC_000010.10:g.89623430G>T , CM000672.1:g.89623430G>T GRCh37
NC_000010.9:g.89613410G>T NCBI36
NG_007466.2:g.5236G>T , LRG_311:g.5236G>T
NG_033079.1:g.4765C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-797G>T ENSP00000514759.2:n.-797G>T
ENST00000710265.1:c.-797G>T ENSP00000518161.1:n.-797G>T
ENST00000706954.1:c.-16-781G>T ENSP00000516674.1:n.-16-781G>T
ENST00000706955.1:c.-797G>T ENSP00000516675.1:n.-797G>T
ENST00000688158.1:c.-797G>T ENSP00000509254.1:n.-797G>T
ENST00000688308.1:c.-17+560G>T ENSP00000508752.1:n.-17+560G>T
ENST00000693560.1:c.-277G>T ENSP00000509861.1:n.-277G>T
ENST00000371953.8:c.-797G>T MANE Select ENSP00000361021.3:n.-797G>T
ENST00000371953.7:c.-797G>T ENSP00000361021.3:n.-797G>T
ENST00000610634.1:c.-899G>T ENSP00000477517.1:n.-899G>T
NM_000314.5:c.-796G>T NP_000305.3:n.-796G>T
NM_000314.6:c.-796G>T NP_000305.3:n.-796G>T
NM_001304717.2:c.-277G>T NP_001291646.2:n.-277G>T
NM_001304718.1:c.-1501G>T NP_001291647.1:n.-1501G>T
NM_000314.7:c.-796G>T NP_000305.3:n.-796G>T
NM_001304717.5:c.-277G>T NP_001291646.4:n.-277G>T
NM_001304718.2:c.-1501G>T NP_001291647.1:n.-1501G>T
NM_000314.8:c.-797G>T MANE Select NP_000305.3:n.-797G>T
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