Canonical Allele Identifier: CA169699

Gene: PTEN KLLN

Linked Data

• ClinVar Variation Id: 142892
• ClinVar RCV Id: RCV000132359
• dbSNP Id: rs587782801
• gnomAD v4: 10-87863336-G-A
• MyVariant Identifiers: chr10:g.89623093G>A (hg19) ; chr10:g.87863336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863336G>A , CM000672.2:g.87863336G>A	GRCh38
NC_000010.10:g.89623093G>A , CM000672.1:g.89623093G>A	GRCh37
NC_000010.9:g.89613073G>A	NCBI36
NG_007466.2:g.4899G>A , LRG_311:g.4899G>A
NG_033079.1:g.5102C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706954.1:c.-17+694G>A (PTEN)	ENSP00000516674.1:n.-17+694G>A
ENST00000688308.1:c.-17+223G>A (PTEN)	ENSP00000508752.1:n.-17+223G>A
ENST00000445946.5:c.-849C>T (KLLN) MANE Select	ENSP00000392204.2:n.-849C>T
ENST00000371953.7:c.-1134G>A (PTEN)	ENSP00000361021.3:n.-1134G>A
ENST00000445946.3:c.-849C>T (KLLN)	ENSP00000392204.2:n.-849C>T
NM_001126049.1:c.-849C>T (KLLN)	NP_001119521.1:n.-849C>T
NM_001126049.2:c.-849C>T (KLLN) MANE Select	NP_001119521.1:n.-849C>T