Canonical Allele Identifier: CA377484319

Gene: PTEN

Linked Data

• ClinVar Variation Id: 960928
• ClinVar RCV Id: RCV001234539
• dbSNP Id: rs1860417734
• COSMIC: COSM76106
• MyVariant Identifiers: chr10:g.89711905G>T (hg19) ; chr10:g.87952148G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952148G>T , CM000672.2:g.87952148G>T	GRCh38
NC_000010.10:g.89711905G>T , CM000672.1:g.89711905G>T	GRCh37
NC_000010.9:g.89701885G>T	NCBI36
NG_007466.2:g.93710G>T , LRG_311:g.93710G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.523G>T	ENSP00000514759.2:p.Val175Leu
ENST00000710265.1:c.523G>T	ENSP00000518161.1:p.Val175Leu
ENST00000472832.3:c.523G>T	ENSP00000483066.2:p.Val175Leu
ENST00000688158.2:n.1258G>T
ENST00000688922.2:c.*353G>T	ENSP00000508742.2:n.*353G>T
ENST00000700021.1:c.478G>T	ENSP00000514757.1:p.Val160Leu
ENST00000700022.1:c.493-5705G>T	ENSP00000514758.1:n.493-5705G>T
ENST00000700023.1:n.1681G>T
ENST00000700024.1:n.1915G>T
ENST00000700025.1:n.1292G>T
ENST00000700029.1:c.357G>T
ENST00000706954.1:c.523G>T	ENSP00000516674.1:p.Val175Leu
ENST00000706955.1:c.*558G>T	ENSP00000516675.1:n.*558G>T
ENST00000686459.1:c.*109G>T	ENSP00000508909.1:n.*109G>T
ENST00000688158.1:c.*634G>T	ENSP00000509254.1:n.*634G>T
ENST00000688308.1:c.523G>T	ENSP00000508752.1:p.Val175Leu
ENST00000688922.1:c.444G>T
ENST00000693560.1:c.1042G>T	ENSP00000509861.1:p.Val348Leu
ENST00000371953.8:c.523G>T MANE Select	ENSP00000361021.3:p.Val175Leu
ENST00000371953.7:c.523G>T	ENSP00000361021.3:p.Val175Leu
NM_000314.5:c.523G>T	NP_000305.3:p.Val175Leu
NM_000314.6:c.523G>T	NP_000305.3:p.Val175Leu
NM_001304717.2:c.1042G>T	NP_001291646.2:p.Val348Leu
NM_001304718.1:c.-69G>T	NP_001291647.1:n.-69G>T
XM_006717926.2:c.478G>T	XP_006717989.1:p.Val160Leu
XM_011539981.1:c.523G>T	XP_011538283.1:p.Val175Leu
XM_011539982.1:c.427G>T	XP_011538284.1:p.Val143Leu
XR_945789.1:n.1394G>T
XR_945790.1:n.1511G>T
XR_945791.1:n.1205-5705G>T
NM_000314.7:c.523G>T	NP_000305.3:p.Val175Leu
NM_001304717.5:c.1042G>T	NP_001291646.4:p.Val348Leu
NM_001304718.2:c.-69G>T	NP_001291647.1:n.-69G>T
NM_000314.8:c.523G>T MANE Select	NP_000305.3:p.Val175Leu