Canonical Allele Identifier: CA16619020

Gene: PTEN KLLN

Linked Data

• ClinVar Variation Id: 422544
• ClinVar RCV Id: RCV000479545 ; RCV001017056
• dbSNP Id: rs1064795849
• MyVariant Identifiers: chr10:g.89623198C>G (hg19) ; chr10:g.87863441C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863441C>G , CM000672.2:g.87863441C>G	GRCh38
NC_000010.10:g.89623198C>G , CM000672.1:g.89623198C>G	GRCh37
NC_000010.9:g.89613178C>G	NCBI36
NG_007466.2:g.5004C>G , LRG_311:g.5004C>G
NG_033079.1:g.4997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+799C>G (PTEN)	ENSP00000516674.1:n.-17+799C>G
ENST00000688308.1:c.-17+328C>G (PTEN)	ENSP00000508752.1:n.-17+328C>G
ENST00000693560.1:c.-509C>G (PTEN)	ENSP00000509861.1:n.-509C>G
ENST00000445946.5:c.-954G>C (KLLN) MANE Select	ENSP00000392204.2:n.-954G>C
ENST00000371953.7:c.-1029C>G (PTEN)	ENSP00000361021.3:n.-1029C>G
ENST00000610634.1:c.-1131C>G (PTEN)	ENSP00000477517.1:n.-1131C>G
NM_000314.5:c.-1028C>G (PTEN)	NP_000305.3:n.-1028C>G
NM_000314.6:c.-1028C>G (PTEN)	NP_000305.3:n.-1028C>G
NM_001304717.2:c.-509C>G (PTEN)	NP_001291646.2:n.-509C>G
NM_001304718.1:c.-1733C>G (PTEN)	NP_001291647.1:n.-1733C>G
NM_001126049.2:c.-954G>C (KLLN) MANE Select	NP_001119521.1:n.-954G>C