Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA166530

Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 141821

ClinVar RCV Id: RCV000130490

dbSNP Id: rs587782034

MyVariant Identifiers: chr10:g.89622939C>G (hg19) chr10:g.87863182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863182C>G , CM000672.2:g.87863182C>G	GRCh38
NC_000010.10:g.89622939C>G , CM000672.1:g.89622939C>G	GRCh37
NC_000010.9:g.89612919C>G	NCBI36
NG_007466.2:g.4745C>G , LRG_311:g.4745C>G
NG_033079.1:g.5256G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+540C>G (PTEN)	ENSP00000516674.1:n.-17+540C>G
ENST00000688308.1:c.-17+69C>G (PTEN)	ENSP00000508752.1:n.-17+69C>G
ENST00000445946.5:c.-695G>C (KLLN) MANE Select	ENSP00000392204.2:n.-695G>C
ENST00000371953.7:c.-1288C>G (PTEN)	ENSP00000361021.3:n.-1288C>G
ENST00000445946.3:c.-695G>C (KLLN)	ENSP00000392204.2:n.-695G>C
NM_001126049.1:c.-695G>C (KLLN)	NP_001119521.1:n.-695G>C
NM_001126049.2:c.-695G>C (KLLN) MANE Select	NP_001119521.1:n.-695G>C