Canonical Allele Identifier: CA211452841
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 488775
ClinVar RCV Id: RCV000579369 RCV002256400
dbSNP Id: rs1050226735
gnomAD v2: 10-89623412-T-C
gnomAD v3: 10-87863655-T-C
gnomAD v4: 10-87863655-T-C
MyVariant Identifiers: chr10:g.89623412T>C (hg19) chr10:g.87863655T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863655T>C , CM000672.2:g.87863655T>C GRCh38
NC_000010.10:g.89623412T>C , CM000672.1:g.89623412T>C GRCh37
NC_000010.9:g.89613392T>C NCBI36
NG_007466.2:g.5218T>C , LRG_311:g.5218T>C
NG_033079.1:g.4783A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-815T>C ENSP00000514759.2:n.-815T>C
ENST00000710265.1:c.-815T>C ENSP00000518161.1:n.-815T>C
ENST00000706954.1:c.-16-799T>C ENSP00000516674.1:n.-16-799T>C
ENST00000706955.1:c.-815T>C ENSP00000516675.1:n.-815T>C
ENST00000688158.1:c.-815T>C ENSP00000509254.1:n.-815T>C
ENST00000688308.1:c.-17+542T>C ENSP00000508752.1:n.-17+542T>C
ENST00000693560.1:c.-295T>C ENSP00000509861.1:n.-295T>C
ENST00000371953.8:c.-815T>C MANE Select ENSP00000361021.3:n.-815T>C
ENST00000371953.7:c.-815T>C ENSP00000361021.3:n.-815T>C
ENST00000610634.1:c.-917T>C ENSP00000477517.1:n.-917T>C
NM_000314.5:c.-814T>C NP_000305.3:n.-814T>C
NM_000314.6:c.-814T>C NP_000305.3:n.-814T>C
NM_001304717.2:c.-295T>C NP_001291646.2:n.-295T>C
NM_001304718.1:c.-1519T>C NP_001291647.1:n.-1519T>C
NM_000314.7:c.-814T>C NP_000305.3:n.-814T>C
NM_001304717.5:c.-295T>C NP_001291646.4:n.-295T>C
NM_001304718.2:c.-1519T>C NP_001291647.1:n.-1519T>C
NM_000314.8:c.-815T>C MANE Select NP_000305.3:n.-815T>C
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