Canonical Allele Identifier: CA211452056
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 488773
ClinVar RCV Id: RCV000578655
dbSNP Id: rs965758202
MyVariant Identifiers: chr10:g.89623005G>C (hg19) chr10:g.87863248G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863248G>C , CM000672.2:g.87863248G>C GRCh38
NC_000010.10:g.89623005G>C , CM000672.1:g.89623005G>C GRCh37
NC_000010.9:g.89612985G>C NCBI36
NG_007466.2:g.4811G>C , LRG_311:g.4811G>C
NG_033079.1:g.5190C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+606G>C (PTEN) ENSP00000516674.1:n.-17+606G>C
ENST00000688308.1:c.-17+135G>C (PTEN) ENSP00000508752.1:n.-17+135G>C
ENST00000445946.5:c.-761C>G (KLLN) MANE Select ENSP00000392204.2:n.-761C>G
ENST00000371953.7:c.-1222G>C (PTEN) ENSP00000361021.3:n.-1222G>C
ENST00000445946.3:c.-761C>G (KLLN) ENSP00000392204.2:n.-761C>G
NM_001126049.1:c.-761C>G (KLLN) NP_001119521.1:n.-761C>G
NM_001126049.2:c.-761C>G (KLLN) MANE Select NP_001119521.1:n.-761C>G
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