Canonical Allele Identifier: CA000105

Gene: PTEN KLLN

Linked Data

• ClinVar Variation Id: 138836
• ClinVar RCV Id: RCV000127649 ; RCV000710301
• dbSNP Id: rs34149102
• gnomAD v2: 10-89623200-C-A
• gnomAD v3: 10-87863443-C-A
• gnomAD v4: 10-87863443-C-A
• MyVariant Identifiers: chr10:g.89623200C>A (hg19) ; chr10:g.87863443C>A (hg38)
• ERepo: CA000105/MONDO:0017623/003

Genomic Alleles

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

Transcript Alleles

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