Canonical Allele Identifier: CA2573053362
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1318545
ClinVar RCV Id: RCV001753320
dbSNP Id: rs1858335574
gnomAD v4: 10-87863553-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863553G>C , CM000672.2:g.87863553G>C GRCh38
NC_000010.10:g.89623310G>C , CM000672.1:g.89623310G>C GRCh37
NC_000010.9:g.89613290G>C NCBI36
NG_007466.2:g.5116G>C , LRG_311:g.5116G>C
NG_033079.1:g.4885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-901G>C ENSP00000516674.1:n.-16-901G>C
ENST00000688308.1:c.-17+440G>C ENSP00000508752.1:n.-17+440G>C
ENST00000693560.1:c.-397G>C ENSP00000509861.1:n.-397G>C
ENST00000371953.7:c.-917G>C ENSP00000361021.3:n.-917G>C
ENST00000610634.1:c.-1019G>C ENSP00000477517.1:n.-1019G>C
NM_000314.5:c.-916G>C NP_000305.3:n.-916G>C
NM_000314.6:c.-916G>C NP_000305.3:n.-916G>C
NM_001304717.2:c.-397G>C NP_001291646.2:n.-397G>C
NM_001304718.1:c.-1621G>C NP_001291647.1:n.-1621G>C
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