Canonical Allele Identifier: CA669540404

Gene: PTEN KLLN

Linked Data

• ClinVar Variation Id: 1769634
• ClinVar RCV Id: RCV002385417
• dbSNP Id: rs34149102
• gnomAD v4: 10-87863443-C-T
• MyVariant Identifiers: chr10:g.89623200C>T (hg19) ; chr10:g.87863443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863443C>T , CM000672.2:g.87863443C>T	GRCh38
NC_000010.10:g.89623200C>T , CM000672.1:g.89623200C>T	GRCh37
NC_000010.9:g.89613180C>T	NCBI36
NG_007466.2:g.5006C>T , LRG_311:g.5006C>T
NG_033079.1:g.4995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+801C>T (PTEN)	ENSP00000516674.1:n.-17+801C>T
ENST00000688308.1:c.-17+330C>T (PTEN)	ENSP00000508752.1:n.-17+330C>T
ENST00000693560.1:c.-507C>T (PTEN)	ENSP00000509861.1:n.-507C>T
ENST00000445946.5:c.-956G>A (KLLN) MANE Select	ENSP00000392204.2:n.-956G>A
ENST00000371953.7:c.-1027C>T (PTEN)	ENSP00000361021.3:n.-1027C>T
ENST00000610634.1:c.-1129C>T (PTEN)	ENSP00000477517.1:n.-1129C>T
NM_000314.5:c.-1026C>T (PTEN)	NP_000305.3:n.-1026C>T
NM_000314.6:c.-1026C>T (PTEN)	NP_000305.3:n.-1026C>T
NM_001304717.2:c.-507C>T (PTEN)	NP_001291646.2:n.-507C>T
NM_001304718.1:c.-1731C>T (PTEN)	NP_001291647.1:n.-1731C>T
NM_001126049.2:c.-956G>A (KLLN) MANE Select	NP_001119521.1:n.-956G>A