Canonical Allele Identifier: CA377484778
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957865T>A , CM000672.2:g.87957865T>A GRCh38
NC_000010.10:g.89717622T>A , CM000672.1:g.89717622T>A GRCh37
NC_000010.9:g.89707602T>A NCBI36
NG_007466.2:g.99427T>A , LRG_311:g.99427T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.647T>A ENSP00000514759.2:p.Val216Glu
ENST00000710265.1:c.647T>A ENSP00000518161.1:p.Val216Glu
ENST00000472832.3:c.647T>A ENSP00000483066.2:p.Val216Glu
ENST00000688158.2:n.1382T>A
ENST00000688922.2:c.*477T>A ENSP00000508742.2:n.*477T>A
ENST00000700021.1:c.602T>A ENSP00000514757.1:p.Val201Glu
ENST00000700022.1:c.505T>A ENSP00000514758.1:p.Trp169Arg
ENST00000700023.1:n.1805T>A
ENST00000700024.1:n.2039T>A
ENST00000700025.1:n.1416T>A
ENST00000700026.1:n.284T>A
ENST00000700029.1:c.481T>A
ENST00000706954.1:c.647T>A ENSP00000516674.1:p.Val216Glu
ENST00000706955.1:c.*682T>A ENSP00000516675.1:n.*682T>A
ENST00000686459.1:c.*233T>A ENSP00000508909.1:n.*233T>A
ENST00000688158.1:c.*758T>A ENSP00000509254.1:n.*758T>A
ENST00000688308.1:c.647T>A ENSP00000508752.1:p.Val216Glu
ENST00000688922.1:c.568T>A
ENST00000693560.1:c.1166T>A ENSP00000509861.1:p.Val389Glu
ENST00000371953.8:c.647T>A MANE Select ENSP00000361021.3:p.Val216Glu
ENST00000371953.7:c.647T>A ENSP00000361021.3:p.Val216Glu
ENST00000472832.2:c.74T>A ENSP00000483066.1:p.Val25Glu
NM_000314.5:c.647T>A NP_000305.3:p.Val216Glu
NM_000314.6:c.647T>A NP_000305.3:p.Val216Glu
NM_001304717.2:c.1166T>A NP_001291646.2:p.Val389Glu
NM_001304718.1:c.56T>A NP_001291647.1:p.Val19Glu
XM_006717926.2:c.602T>A XP_006717989.1:p.Val201Glu
XM_011539981.1:c.647T>A XP_011538283.1:p.Val216Glu
XM_011539982.1:c.551T>A XP_011538284.1:p.Val184Glu
XR_945791.1:n.1217T>A
NM_000314.7:c.647T>A NP_000305.3:p.Val216Glu
NM_001304717.5:c.1166T>A NP_001291646.4:p.Val389Glu
NM_001304718.2:c.56T>A NP_001291647.1:p.Val19Glu
NM_000314.8:c.647T>A MANE Select NP_000305.3:p.Val216Glu