Canonical Allele Identifier: CA000581
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 127674
ClinVar RCV Id: RCV000115569 RCV000232535 RCV000258981 RCV001804844
dbSNP Id: rs587779992
gnomAD v3: 10-87863671-G-C
gnomAD v4: 10-87863671-G-C
MyVariant Identifiers: chr10:g.89623428G>C (hg19) chr10:g.87863671G>C (hg38)
ERepo: CA000581/MONDO:0017623/003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863671G>C , CM000672.2:g.87863671G>C GRCh38
NC_000010.10:g.89623428G>C , CM000672.1:g.89623428G>C GRCh37
NC_000010.9:g.89613408G>C NCBI36
NG_007466.2:g.5234G>C , LRG_311:g.5234G>C
NG_033079.1:g.4767C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-799G>C ENSP00000514759.2:n.-799G>C
ENST00000710265.1:c.-799G>C ENSP00000518161.1:n.-799G>C
ENST00000706954.1:c.-16-783G>C ENSP00000516674.1:n.-16-783G>C
ENST00000706955.1:c.-799G>C ENSP00000516675.1:n.-799G>C
ENST00000688158.1:c.-799G>C ENSP00000509254.1:n.-799G>C
ENST00000688308.1:c.-17+558G>C ENSP00000508752.1:n.-17+558G>C
ENST00000693560.1:c.-279G>C ENSP00000509861.1:n.-279G>C
ENST00000371953.8:c.-799G>C MANE Select ENSP00000361021.3:n.-799G>C
ENST00000371953.7:c.-799G>C ENSP00000361021.3:n.-799G>C
ENST00000610634.1:c.-901G>C ENSP00000477517.1:n.-901G>C
NM_000314.5:c.-798G>C NP_000305.3:n.-798G>C
NM_000314.6:c.-798G>C NP_000305.3:n.-798G>C
NM_001304717.2:c.-279G>C NP_001291646.2:n.-279G>C
NM_001304718.1:c.-1503G>C NP_001291647.1:n.-1503G>C
NM_000314.7:c.-798G>C NP_000305.3:n.-798G>C
NM_001304717.5:c.-279G>C NP_001291646.4:n.-279G>C
NM_001304718.2:c.-1503G>C NP_001291647.1:n.-1503G>C
NM_000314.8:c.-799G>C MANE Select NP_000305.3:n.-799G>C
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