Canonical Allele Identifier: CA930912576
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858331701
gnomAD v3: 10-87863499-T-G
gnomAD v4: 10-87863499-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863499T>G , CM000672.2:g.87863499T>G GRCh38
NC_000010.10:g.89623256T>G , CM000672.1:g.89623256T>G GRCh37
NC_000010.9:g.89613236T>G NCBI36
NG_007466.2:g.5062T>G , LRG_311:g.5062T>G
NG_033079.1:g.4939A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+857T>G (PTEN) ENSP00000516674.1:n.-17+857T>G
ENST00000688308.1:c.-17+386T>G (PTEN) ENSP00000508752.1:n.-17+386T>G
ENST00000693560.1:c.-451T>G (PTEN) ENSP00000509861.1:n.-451T>G
ENST00000445946.5:c.-1012A>C (KLLN) MANE Select ENSP00000392204.2:n.-1012A>C
ENST00000371953.7:c.-971T>G (PTEN) ENSP00000361021.3:n.-971T>G
ENST00000610634.1:c.-1073T>G (PTEN) ENSP00000477517.1:n.-1073T>G
NM_000314.5:c.-970T>G (PTEN) NP_000305.3:n.-970T>G
NM_000314.6:c.-970T>G (PTEN) NP_000305.3:n.-970T>G
NM_001304717.2:c.-451T>G (PTEN) NP_001291646.2:n.-451T>G
NM_001304718.1:c.-1675T>G (PTEN) NP_001291647.1:n.-1675T>G
NM_001126049.2:c.-1012A>C (KLLN) MANE Select NP_001119521.1:n.-1012A>C
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