Canonical Allele Identifier: CA10578930

Gene: PTEN

Linked Data

• ClinVar Variation Id: 230554
• ClinVar RCV Id: RCV000217400 ; RCV000645073 ; RCV003150119
• dbSNP Id: rs876658630
• MyVariant Identifiers: chr10:g.89720798G>A (hg19) ; chr10:g.87961041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961041G>A , CM000672.2:g.87961041G>A	GRCh38
NC_000010.10:g.89720798G>A , CM000672.1:g.89720798G>A	GRCh37
NC_000010.9:g.89710778G>A	NCBI36
NG_007466.2:g.102603G>A , LRG_311:g.102603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1042G>A	ENSP00000514759.2:p.Val348Ile
ENST00000710265.1:c.949G>A	ENSP00000518161.1:p.Val317Ile
ENST00000472832.3:c.949G>A	ENSP00000483066.2:p.Val317Ile
ENST00000688158.2:n.1684G>A
ENST00000688922.2:c.*779G>A	ENSP00000508742.2:n.*779G>A
ENST00000700021.1:c.904G>A	ENSP00000514757.1:p.Val302Ile
ENST00000700022.1:c.*288G>A	ENSP00000514758.1:n.*288G>A
ENST00000700023.1:n.2107G>A
ENST00000700024.1:n.2341G>A
ENST00000700025.1:n.1718G>A
ENST00000700026.1:n.586G>A
ENST00000706954.1:c.949G>A	ENSP00000516674.1:p.Val317Ile
ENST00000706955.1:c.*984G>A	ENSP00000516675.1:n.*984G>A
ENST00000686459.1:c.*535G>A	ENSP00000508909.1:n.*535G>A
ENST00000688158.1:c.*1060G>A	ENSP00000509254.1:n.*1060G>A
ENST00000688308.1:c.949G>A	ENSP00000508752.1:p.Val317Ile
ENST00000688922.1:c.870G>A
ENST00000693560.1:c.1468G>A	ENSP00000509861.1:p.Val490Ile
ENST00000371953.8:c.949G>A MANE Select	ENSP00000361021.3:p.Val317Ile
ENST00000371953.7:c.949G>A	ENSP00000361021.3:p.Val317Ile
ENST00000472832.2:c.376G>A	ENSP00000483066.1:p.Val126Ile
NM_000314.5:c.949G>A	NP_000305.3:p.Val317Ile
NM_000314.6:c.949G>A	NP_000305.3:p.Val317Ile
NM_001304717.2:c.1468G>A	NP_001291646.2:p.Val490Ile
NM_001304718.1:c.358G>A	NP_001291647.1:p.Val120Ile
XM_006717926.2:c.904G>A	XP_006717989.1:p.Val302Ile
XM_011539981.1:c.949G>A	XP_011538283.1:p.Val317Ile
XM_011539982.1:c.853G>A	XP_011538284.1:p.Val285Ile
XR_945791.1:n.1519G>A
NM_000314.7:c.949G>A	NP_000305.3:p.Val317Ile
NM_001304717.5:c.1468G>A	NP_001291646.4:p.Val490Ile
NM_001304718.2:c.358G>A	NP_001291647.1:p.Val120Ile
NM_000314.8:c.949G>A MANE Select	NP_000305.3:p.Val317Ile