Canonical Allele Identifier: CA151479
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 127660
ClinVar RCV Id: RCV000115555 RCV000201312 RCV000229583 RCV000586614 RCV000662713 RCV002498494 RCV003654199
dbSNP Id: rs538728843
gnomAD v2: 10-89623142-C-T
gnomAD v3: 10-87863385-C-T
gnomAD v4: 10-87863385-C-T
MyVariant Identifiers: chr10:g.89623142C>T (hg19) chr10:g.87863385C>T (hg38)
ERepo: CA151479/MONDO:0017623/003
PubMed: PMID:27878467
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863385C>T , CM000672.2:g.87863385C>T GRCh38
NC_000010.10:g.89623142C>T , CM000672.1:g.89623142C>T GRCh37
NC_000010.9:g.89613122C>T NCBI36
NG_007466.2:g.4948C>T , LRG_311:g.4948C>T
NG_033079.1:g.5053G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+743C>T (PTEN) ENSP00000516674.1:n.-17+743C>T
ENST00000688308.1:c.-17+272C>T (PTEN) ENSP00000508752.1:n.-17+272C>T
ENST00000445946.5:c.-898G>A (KLLN) MANE Select ENSP00000392204.2:n.-898G>A
ENST00000371953.7:c.-1085C>T (PTEN) ENSP00000361021.3:n.-1085C>T
ENST00000445946.3:c.-898G>A (KLLN) ENSP00000392204.2:n.-898G>A
NM_001126049.1:c.-898G>A (KLLN) NP_001119521.1:n.-898G>A
NM_001126049.2:c.-898G>A (KLLN) MANE Select NP_001119521.1:n.-898G>A
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