Canonical Allele Identifier: CA913189533
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 619911
ClinVar RCV Id: RCV000760056
dbSNP Id: rs1554889906
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863496T>G , CM000672.2:g.87863496T>G GRCh38
NC_000010.10:g.89623253T>G , CM000672.1:g.89623253T>G GRCh37
NC_000010.9:g.89613233T>G NCBI36
NG_007466.2:g.5059T>G , LRG_311:g.5059T>G
NG_033079.1:g.4942A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+854T>G (PTEN) ENSP00000516674.1:n.-17+854T>G
ENST00000688308.1:c.-17+383T>G (PTEN) ENSP00000508752.1:n.-17+383T>G
ENST00000693560.1:c.-454T>G (PTEN) ENSP00000509861.1:n.-454T>G
ENST00000445946.5:c.-1009A>C (KLLN) MANE Select ENSP00000392204.2:n.-1009A>C
ENST00000371953.7:c.-974T>G (PTEN) ENSP00000361021.3:n.-974T>G
ENST00000610634.1:c.-1076T>G (PTEN) ENSP00000477517.1:n.-1076T>G
NM_000314.5:c.-973T>G (PTEN) NP_000305.3:n.-973T>G
NM_000314.6:c.-973T>G (PTEN) NP_000305.3:n.-973T>G
NM_001304717.2:c.-454T>G (PTEN) NP_001291646.2:n.-454T>G
NM_001304718.1:c.-1678T>G (PTEN) NP_001291647.1:n.-1678T>G
NM_001126049.2:c.-1009A>C (KLLN) MANE Select NP_001119521.1:n.-1009A>C
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