Canonical Allele Identifier: CA2580082228
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1760546
ClinVar RCV Id: RCV002409765
gnomAD v4: 10-87863693-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863693G>T , CM000672.2:g.87863693G>T GRCh38
NC_000010.10:g.89623450G>T , CM000672.1:g.89623450G>T GRCh37
NC_000010.9:g.89613430G>T NCBI36
NG_007466.2:g.5256G>T , LRG_311:g.5256G>T
NG_033079.1:g.4745C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-777G>T ENSP00000514759.2:n.-777G>T
ENST00000710265.1:c.-777G>T ENSP00000518161.1:n.-777G>T
ENST00000706954.1:c.-16-761G>T ENSP00000516674.1:n.-16-761G>T
ENST00000706955.1:c.-777G>T ENSP00000516675.1:n.-777G>T
ENST00000688158.1:c.-777G>T ENSP00000509254.1:n.-777G>T
ENST00000688308.1:c.-17+580G>T ENSP00000508752.1:n.-17+580G>T
ENST00000693560.1:c.-257G>T ENSP00000509861.1:n.-257G>T
ENST00000371953.8:c.-777G>T MANE Select ENSP00000361021.3:n.-777G>T
ENST00000371953.7:c.-777G>T ENSP00000361021.3:n.-777G>T
ENST00000610634.1:c.-879G>T ENSP00000477517.1:n.-879G>T
NM_000314.5:c.-776G>T NP_000305.3:n.-776G>T
NM_000314.6:c.-776G>T NP_000305.3:n.-776G>T
NM_001304717.2:c.-257G>T NP_001291646.2:n.-257G>T
NM_001304718.1:c.-1481G>T NP_001291647.1:n.-1481G>T
NM_000314.7:c.-776G>T NP_000305.3:n.-776G>T
NM_001304717.5:c.-257G>T NP_001291646.4:n.-257G>T
NM_001304718.2:c.-1481G>T NP_001291647.1:n.-1481G>T
NM_000314.8:c.-777G>T MANE Select NP_000305.3:n.-777G>T
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