Canonical Allele Identifier: CA669540011
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1350390665
gnomAD v3: 10-87863110-A-G
gnomAD v4: 10-87863110-A-G
MyVariant Identifiers: chr10:g.89622867A>G (hg19) chr10:g.87863110A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863110A>G , CM000672.2:g.87863110A>G GRCh38
NC_000010.10:g.89622867A>G , CM000672.1:g.89622867A>G GRCh37
NC_000010.9:g.89612847A>G NCBI36
NG_007466.2:g.4673A>G , LRG_311:g.4673A>G
NG_033079.1:g.5328T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+468A>G (PTEN) ENSP00000516674.1:n.-17+468A>G
ENST00000688308.1:c.-20A>G (PTEN) ENSP00000508752.1:n.-20A>G
ENST00000445946.5:c.-623T>C (KLLN) MANE Select ENSP00000392204.2:n.-623T>C
ENST00000445946.3:c.-623T>C (KLLN) ENSP00000392204.2:n.-623T>C
NM_001126049.1:c.-623T>C (KLLN) NP_001119521.1:n.-623T>C
NM_001126049.2:c.-623T>C (KLLN) MANE Select NP_001119521.1:n.-623T>C
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