Canonical Allele Identifier: CA658683642
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 488893
ClinVar RCV Id: RCV000587779
dbSNP Id: rs1036616021
gnomAD v3: 10-87863686-G-T
gnomAD v4: 10-87863686-G-T
MyVariant Identifiers: chr10:g.89623443G>T (hg19) chr10:g.87863686G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863686G>T , CM000672.2:g.87863686G>T GRCh38
NC_000010.10:g.89623443G>T , CM000672.1:g.89623443G>T GRCh37
NC_000010.9:g.89613423G>T NCBI36
NG_007466.2:g.5249G>T , LRG_311:g.5249G>T
NG_033079.1:g.4752C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-784G>T ENSP00000514759.2:n.-784G>T
ENST00000710265.1:c.-784G>T ENSP00000518161.1:n.-784G>T
ENST00000706954.1:c.-16-768G>T ENSP00000516674.1:n.-16-768G>T
ENST00000706955.1:c.-784G>T ENSP00000516675.1:n.-784G>T
ENST00000688158.1:c.-784G>T ENSP00000509254.1:n.-784G>T
ENST00000688308.1:c.-17+573G>T ENSP00000508752.1:n.-17+573G>T
ENST00000693560.1:c.-264G>T ENSP00000509861.1:n.-264G>T
ENST00000371953.8:c.-784G>T MANE Select ENSP00000361021.3:n.-784G>T
ENST00000371953.7:c.-784G>T ENSP00000361021.3:n.-784G>T
ENST00000610634.1:c.-886G>T ENSP00000477517.1:n.-886G>T
NM_000314.5:c.-783G>T NP_000305.3:n.-783G>T
NM_000314.6:c.-783G>T NP_000305.3:n.-783G>T
NM_001304717.2:c.-264G>T NP_001291646.2:n.-264G>T
NM_001304718.1:c.-1488G>T NP_001291647.1:n.-1488G>T
NM_000314.7:c.-783G>T NP_000305.3:n.-783G>T
NM_001304717.5:c.-264G>T NP_001291646.4:n.-264G>T
NM_001304718.2:c.-1488G>T NP_001291647.1:n.-1488G>T
NM_000314.8:c.-784G>T MANE Select NP_000305.3:n.-784G>T
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