Canonical Allele Identifier: CA211452593
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1692374
ClinVar RCV Id: RCV002257174
dbSNP Id: rs1042717654
gnomAD v3: 10-87863534-G-A
gnomAD v4: 10-87863534-G-A
MyVariant Identifiers: chr10:g.89623291G>A (hg19) chr10:g.87863534G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863534G>A , CM000672.2:g.87863534G>A GRCh38
NC_000010.10:g.89623291G>A , CM000672.1:g.89623291G>A GRCh37
NC_000010.9:g.89613271G>A NCBI36
NG_007466.2:g.5097G>A , LRG_311:g.5097G>A
NG_033079.1:g.4904C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+892G>A ENSP00000516674.1:n.-17+892G>A
ENST00000688308.1:c.-17+421G>A ENSP00000508752.1:n.-17+421G>A
ENST00000693560.1:c.-416G>A ENSP00000509861.1:n.-416G>A
ENST00000371953.7:c.-936G>A ENSP00000361021.3:n.-936G>A
ENST00000610634.1:c.-1038G>A ENSP00000477517.1:n.-1038G>A
NM_000314.5:c.-935G>A NP_000305.3:n.-935G>A
NM_000314.6:c.-935G>A NP_000305.3:n.-935G>A
NM_001304717.2:c.-416G>A NP_001291646.2:n.-416G>A
NM_001304718.1:c.-1640G>A NP_001291647.1:n.-1640G>A
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