Canonical Allele Identifier: CA377486133

Gene: PTEN

Linked Data

• dbSNP Id: rs1860633716
• COSMIC: COSM5208
• MyVariant Identifiers: chr10:g.89720856A>T (hg19) ; chr10:g.87961099A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961099A>T , CM000672.2:g.87961099A>T	GRCh38
NC_000010.10:g.89720856A>T , CM000672.1:g.89720856A>T	GRCh37
NC_000010.9:g.89710836A>T	NCBI36
NG_007466.2:g.102661A>T , LRG_311:g.102661A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1100A>T	ENSP00000514759.2:p.Tyr367Phe
ENST00000710265.1:c.1007A>T	ENSP00000518161.1:p.Tyr336Phe
ENST00000472832.3:c.1007A>T	ENSP00000483066.2:p.Tyr336Phe
ENST00000688158.2:n.1742A>T
ENST00000688922.2:c.*837A>T	ENSP00000508742.2:n.*837A>T
ENST00000700021.1:c.962A>T	ENSP00000514757.1:p.Tyr321Phe
ENST00000700022.1:c.*346A>T	ENSP00000514758.1:n.*346A>T
ENST00000700023.1:n.2165A>T
ENST00000700024.1:n.2399A>T
ENST00000700025.1:n.1776A>T
ENST00000700026.1:n.644A>T
ENST00000706954.1:c.1007A>T	ENSP00000516674.1:p.Tyr336Phe
ENST00000706955.1:c.*1042A>T	ENSP00000516675.1:n.*1042A>T
ENST00000686459.1:c.*593A>T	ENSP00000508909.1:n.*593A>T
ENST00000688158.1:c.*1118A>T	ENSP00000509254.1:n.*1118A>T
ENST00000688308.1:c.1007A>T	ENSP00000508752.1:p.Tyr336Phe
ENST00000688922.1:c.928A>T
ENST00000693560.1:c.1526A>T	ENSP00000509861.1:p.Tyr509Phe
ENST00000371953.8:c.1007A>T MANE Select	ENSP00000361021.3:p.Tyr336Phe
ENST00000371953.7:c.1007A>T	ENSP00000361021.3:p.Tyr336Phe
ENST00000472832.2:c.434A>T	ENSP00000483066.1:p.Tyr145Phe
NM_000314.5:c.1007A>T	NP_000305.3:p.Tyr336Phe
NM_000314.6:c.1007A>T	NP_000305.3:p.Tyr336Phe
NM_001304717.2:c.1526A>T	NP_001291646.2:p.Tyr509Phe
NM_001304718.1:c.416A>T	NP_001291647.1:p.Tyr139Phe
XM_006717926.2:c.962A>T	XP_006717989.1:p.Tyr321Phe
XM_011539981.1:c.1007A>T	XP_011538283.1:p.Tyr336Phe
XM_011539982.1:c.911A>T	XP_011538284.1:p.Tyr304Phe
XR_945791.1:n.1577A>T
NM_000314.7:c.1007A>T	NP_000305.3:p.Tyr336Phe
NM_001304717.5:c.1526A>T	NP_001291646.4:p.Tyr509Phe
NM_001304718.2:c.416A>T	NP_001291647.1:p.Tyr139Phe
NM_000314.8:c.1007A>T MANE Select	NP_000305.3:p.Tyr336Phe