Canonical Allele Identifier: CA377486132

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2109916
• ClinVar RCV Id: RCV003042108
• dbSNP Id: rs1860633716
• MyVariant Identifiers: chr10:g.89720856A>G (hg19) ; chr10:g.87961099A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1100A>G	ENSP00000514759.2:p.Tyr367Cys
ENST00000710265.1:c.1007A>G	ENSP00000518161.1:p.Tyr336Cys
ENST00000472832.3:c.1007A>G	ENSP00000483066.2:p.Tyr336Cys
ENST00000688158.2:n.1742A>G
ENST00000688922.2:c.*837A>G	ENSP00000508742.2:n.*837A>G
ENST00000700021.1:c.962A>G	ENSP00000514757.1:p.Tyr321Cys
ENST00000700022.1:c.*346A>G	ENSP00000514758.1:n.*346A>G
ENST00000700023.1:n.2165A>G
ENST00000700024.1:n.2399A>G
ENST00000700025.1:n.1776A>G
ENST00000700026.1:n.644A>G
ENST00000706954.1:c.1007A>G	ENSP00000516674.1:p.Tyr336Cys
ENST00000706955.1:c.*1042A>G	ENSP00000516675.1:n.*1042A>G
ENST00000686459.1:c.*593A>G	ENSP00000508909.1:n.*593A>G
ENST00000688158.1:c.*1118A>G	ENSP00000509254.1:n.*1118A>G
ENST00000688308.1:c.1007A>G	ENSP00000508752.1:p.Tyr336Cys
ENST00000688922.1:c.928A>G
ENST00000693560.1:c.1526A>G	ENSP00000509861.1:p.Tyr509Cys
ENST00000371953.8:c.1007A>G MANE Select	ENSP00000361021.3:p.Tyr336Cys
ENST00000371953.7:c.1007A>G	ENSP00000361021.3:p.Tyr336Cys
ENST00000472832.2:c.434A>G	ENSP00000483066.1:p.Tyr145Cys
NM_000314.5:c.1007A>G	NP_000305.3:p.Tyr336Cys
NM_000314.6:c.1007A>G	NP_000305.3:p.Tyr336Cys
NM_001304717.2:c.1526A>G	NP_001291646.2:p.Tyr509Cys
NM_001304718.1:c.416A>G	NP_001291647.1:p.Tyr139Cys
XM_006717926.2:c.962A>G	XP_006717989.1:p.Tyr321Cys
XM_011539981.1:c.1007A>G	XP_011538283.1:p.Tyr336Cys
XM_011539982.1:c.911A>G	XP_011538284.1:p.Tyr304Cys
XR_945791.1:n.1577A>G
NM_000314.7:c.1007A>G	NP_000305.3:p.Tyr336Cys
NM_001304717.5:c.1526A>G	NP_001291646.4:p.Tyr509Cys
NM_001304718.2:c.416A>G	NP_001291647.1:p.Tyr139Cys
NM_000314.8:c.1007A>G MANE Select	NP_000305.3:p.Tyr336Cys