Canonical Allele Identifier: CA169990
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 142999
ClinVar RCV Id: RCV000132516
dbSNP Id: rs587782881
MyVariant Identifiers: chr10:g.89623012T>G (hg19) chr10:g.87863255T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863255T>G , CM000672.2:g.87863255T>G GRCh38
NC_000010.10:g.89623012T>G , CM000672.1:g.89623012T>G GRCh37
NC_000010.9:g.89612992T>G NCBI36
NG_007466.2:g.4818T>G , LRG_311:g.4818T>G
NG_033079.1:g.5183A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+613T>G (PTEN) ENSP00000516674.1:n.-17+613T>G
ENST00000688308.1:c.-17+142T>G (PTEN) ENSP00000508752.1:n.-17+142T>G
ENST00000445946.5:c.-768A>C (KLLN) MANE Select ENSP00000392204.2:n.-768A>C
ENST00000371953.7:c.-1215T>G (PTEN) ENSP00000361021.3:n.-1215T>G
ENST00000445946.3:c.-768A>C (KLLN) ENSP00000392204.2:n.-768A>C
NM_001126049.1:c.-768A>C (KLLN) NP_001119521.1:n.-768A>C
NM_001126049.2:c.-768A>C (KLLN) MANE Select NP_001119521.1:n.-768A>C
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