Canonical Allele Identifier: CA658797508
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 503645
ClinVar RCV Id: RCV000598735
dbSNP Id: rs1554890003
gnomAD v4: 10-87863685-C-T
MyVariant Identifiers: chr10:g.89623442C>T (hg19) chr10:g.87863685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863685C>T , CM000672.2:g.87863685C>T GRCh38
NC_000010.10:g.89623442C>T , CM000672.1:g.89623442C>T GRCh37
NC_000010.9:g.89613422C>T NCBI36
NG_007466.2:g.5248C>T , LRG_311:g.5248C>T
NG_033079.1:g.4753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-785C>T ENSP00000514759.2:n.-785C>T
ENST00000710265.1:c.-785C>T ENSP00000518161.1:n.-785C>T
ENST00000706954.1:c.-16-769C>T ENSP00000516674.1:n.-16-769C>T
ENST00000706955.1:c.-785C>T ENSP00000516675.1:n.-785C>T
ENST00000688158.1:c.-785C>T ENSP00000509254.1:n.-785C>T
ENST00000688308.1:c.-17+572C>T ENSP00000508752.1:n.-17+572C>T
ENST00000693560.1:c.-265C>T ENSP00000509861.1:n.-265C>T
ENST00000371953.8:c.-785C>T MANE Select ENSP00000361021.3:n.-785C>T
ENST00000371953.7:c.-785C>T ENSP00000361021.3:n.-785C>T
ENST00000610634.1:c.-887C>T ENSP00000477517.1:n.-887C>T
NM_000314.5:c.-784C>T NP_000305.3:n.-784C>T
NM_000314.6:c.-784C>T NP_000305.3:n.-784C>T
NM_001304717.2:c.-265C>T NP_001291646.2:n.-265C>T
NM_001304718.1:c.-1489C>T NP_001291647.1:n.-1489C>T
NM_000314.7:c.-784C>T NP_000305.3:n.-784C>T
NM_001304717.5:c.-265C>T NP_001291646.4:n.-265C>T
NM_001304718.2:c.-1489C>T NP_001291647.1:n.-1489C>T
NM_000314.8:c.-785C>T MANE Select NP_000305.3:n.-785C>T
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