Canonical Allele Identifier: CA151480
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 127661
ClinVar RCV Id: RCV000115556 RCV000201311 RCV000233564 RCV000590028
dbSNP Id: rs563841270
gnomAD v2: 10-89623084-C-T
gnomAD v3: 10-87863327-C-T
gnomAD v4: 10-87863327-C-T
MyVariant Identifiers: chr10:g.89623084C>T (hg19) chr10:g.87863327C>T (hg38)
PubMed: PMID:20862607
ERepo: CA151480/MONDO:0017623/003
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863327C>T , CM000672.2:g.87863327C>T GRCh38
NC_000010.10:g.89623084C>T , CM000672.1:g.89623084C>T GRCh37
NC_000010.9:g.89613064C>T NCBI36
NG_007466.2:g.4890C>T , LRG_311:g.4890C>T
NG_033079.1:g.5111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+685C>T (PTEN) ENSP00000516674.1:n.-17+685C>T
ENST00000688308.1:c.-17+214C>T (PTEN) ENSP00000508752.1:n.-17+214C>T
ENST00000445946.5:c.-840G>A (KLLN) MANE Select ENSP00000392204.2:n.-840G>A
ENST00000371953.7:c.-1143C>T (PTEN) ENSP00000361021.3:n.-1143C>T
ENST00000445946.3:c.-840G>A (KLLN) ENSP00000392204.2:n.-840G>A
NM_001126049.1:c.-840G>A (KLLN) NP_001119521.1:n.-840G>A
NM_001126049.2:c.-840G>A (KLLN) MANE Select NP_001119521.1:n.-840G>A
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