Canonical Allele Identifier: CA669540402

Gene: PTEN KLLN

Linked Data

• dbSNP Id: rs587781128
• gnomAD v3: 10-87863442-C-G
• gnomAD v4: 10-87863442-C-G
• MyVariant Identifiers: chr10:g.89623199C>G (hg19) ; chr10:g.87863442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863442C>G , CM000672.2:g.87863442C>G	GRCh38
NC_000010.10:g.89623199C>G , CM000672.1:g.89623199C>G	GRCh37
NC_000010.9:g.89613179C>G	NCBI36
NG_007466.2:g.5005C>G , LRG_311:g.5005C>G
NG_033079.1:g.4996G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706954.1:c.-17+800C>G (PTEN)	ENSP00000516674.1:n.-17+800C>G
ENST00000688308.1:c.-17+329C>G (PTEN)	ENSP00000508752.1:n.-17+329C>G
ENST00000693560.1:c.-508C>G (PTEN)	ENSP00000509861.1:n.-508C>G
ENST00000445946.5:c.-955G>C (KLLN) MANE Select	ENSP00000392204.2:n.-955G>C
ENST00000371953.7:c.-1028C>G (PTEN)	ENSP00000361021.3:n.-1028C>G
ENST00000610634.1:c.-1130C>G (PTEN)	ENSP00000477517.1:n.-1130C>G
NM_000314.5:c.-1027C>G (PTEN)	NP_000305.3:n.-1027C>G
NM_000314.6:c.-1027C>G (PTEN)	NP_000305.3:n.-1027C>G
NM_001304717.2:c.-508C>G (PTEN)	NP_001291646.2:n.-508C>G
NM_001304718.1:c.-1732C>G (PTEN)	NP_001291647.1:n.-1732C>G
NM_001126049.2:c.-955G>C (KLLN) MANE Select	NP_001119521.1:n.-955G>C