Canonical Allele Identifier: CA915947304

Gene: PTEN KLLN

Linked Data

• ClinVar Variation Id: 822019
• ClinVar RCV Id: RCV001017016
• dbSNP Id: rs34149102

Genomic Alleles

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

Transcript Alleles

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