Canonical Allele Identifier: CA10578917

Gene: PTEN

Linked Data

• ClinVar Variation Id: 233590
• ClinVar RCV Id: RCV000217155 ; RCV000785382 ; RCV001053859 ; RCV004532806
• dbSNP Id: rs876660507
• COSMIC: COSM5218
• MyVariant Identifiers: chr10:g.89711891G>T (hg19) ; chr10:g.87952134G>T (hg38)
• PubMed: PMID:21194675 ; PMID:21828076 ; PMID:23117110 ; PMID:24778394

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952134G>T , CM000672.2:g.87952134G>T	GRCh38
NC_000010.10:g.89711891G>T , CM000672.1:g.89711891G>T	GRCh37
NC_000010.9:g.89701871G>T	NCBI36
NG_007466.2:g.93696G>T , LRG_311:g.93696G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.509G>T	ENSP00000514759.2:p.Ser170Ile
ENST00000710265.1:c.509G>T	ENSP00000518161.1:p.Ser170Ile
ENST00000472832.3:c.509G>T	ENSP00000483066.2:p.Ser170Ile
ENST00000688158.2:n.1244G>T
ENST00000688922.2:c.*339G>T	ENSP00000508742.2:n.*339G>T
ENST00000700021.1:c.464G>T	ENSP00000514757.1:p.Ser155Ile
ENST00000700022.1:c.493-5719G>T	ENSP00000514758.1:n.493-5719G>T
ENST00000700023.1:n.1667G>T
ENST00000700024.1:n.1901G>T
ENST00000700025.1:n.1278G>T
ENST00000700029.1:c.343G>T
ENST00000706954.1:c.509G>T	ENSP00000516674.1:p.Ser170Ile
ENST00000706955.1:c.*544G>T	ENSP00000516675.1:n.*544G>T
ENST00000686459.1:c.*95G>T	ENSP00000508909.1:n.*95G>T
ENST00000688158.1:c.*620G>T	ENSP00000509254.1:n.*620G>T
ENST00000688308.1:c.509G>T	ENSP00000508752.1:p.Ser170Ile
ENST00000688922.1:c.430G>T
ENST00000693560.1:c.1028G>T	ENSP00000509861.1:p.Ser343Ile
ENST00000371953.8:c.509G>T MANE Select	ENSP00000361021.3:p.Ser170Ile
ENST00000371953.7:c.509G>T	ENSP00000361021.3:p.Ser170Ile
NM_000314.5:c.509G>T	NP_000305.3:p.Ser170Ile
NM_000314.6:c.509G>T	NP_000305.3:p.Ser170Ile
NM_001304717.2:c.1028G>T	NP_001291646.2:p.Ser343Ile
NM_001304718.1:c.-83G>T	NP_001291647.1:n.-83G>T
XM_006717926.2:c.464G>T	XP_006717989.1:p.Ser155Ile
XM_011539981.1:c.509G>T	XP_011538283.1:p.Ser170Ile
XM_011539982.1:c.413G>T	XP_011538284.1:p.Ser138Ile
XR_945789.1:n.1380G>T
XR_945790.1:n.1497G>T
XR_945791.1:n.1205-5719G>T
NM_000314.7:c.509G>T	NP_000305.3:p.Ser170Ile
NM_001304717.5:c.1028G>T	NP_001291646.4:p.Ser343Ile
NM_001304718.2:c.-83G>T	NP_001291647.1:n.-83G>T
NM_000314.8:c.509G>T MANE Select	NP_000305.3:p.Ser170Ile