Canonical Allele Identifier: CA669540558
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 928905
ClinVar RCV Id: RCV001193510
dbSNP Id: rs1158800882
gnomAD v3: 10-87863542-C-G
gnomAD v4: 10-87863542-C-G
MyVariant Identifiers: chr10:g.89623299C>G (hg19) chr10:g.87863542C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863542C>G , CM000672.2:g.87863542C>G GRCh38
NC_000010.10:g.89623299C>G , CM000672.1:g.89623299C>G GRCh37
NC_000010.9:g.89613279C>G NCBI36
NG_007466.2:g.5105C>G , LRG_311:g.5105C>G
NG_033079.1:g.4896G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+900C>G ENSP00000516674.1:n.-17+900C>G
ENST00000688308.1:c.-17+429C>G ENSP00000508752.1:n.-17+429C>G
ENST00000693560.1:c.-408C>G ENSP00000509861.1:n.-408C>G
ENST00000371953.7:c.-928C>G ENSP00000361021.3:n.-928C>G
ENST00000610634.1:c.-1030C>G ENSP00000477517.1:n.-1030C>G
NM_000314.5:c.-927C>G NP_000305.3:n.-927C>G
NM_000314.6:c.-927C>G NP_000305.3:n.-927C>G
NM_001304717.2:c.-408C>G NP_001291646.2:n.-408C>G
NM_001304718.1:c.-1632C>G NP_001291647.1:n.-1632C>G
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