Canonical Allele Identifier: CA377486054
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1114167654

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961066T>A , CM000672.2:g.87961066T>A GRCh38
NC_000010.10:g.89720823T>A , CM000672.1:g.89720823T>A GRCh37
NC_000010.9:g.89710803T>A NCBI36
NG_007466.2:g.102628T>A , LRG_311:g.102628T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1067T>A ENSP00000514759.2:p.Leu356His
ENST00000710265.1:c.974T>A ENSP00000518161.1:p.Leu325His
ENST00000472832.3:c.974T>A ENSP00000483066.2:p.Leu325His
ENST00000688158.2:n.1709T>A
ENST00000688922.2:c.*804T>A ENSP00000508742.2:n.*804T>A
ENST00000700021.1:c.929T>A ENSP00000514757.1:p.Leu310His
ENST00000700022.1:c.*313T>A ENSP00000514758.1:n.*313T>A
ENST00000700023.1:n.2132T>A
ENST00000700024.1:n.2366T>A
ENST00000700025.1:n.1743T>A
ENST00000700026.1:n.611T>A
ENST00000706954.1:c.974T>A ENSP00000516674.1:p.Leu325His
ENST00000706955.1:c.*1009T>A ENSP00000516675.1:n.*1009T>A
ENST00000686459.1:c.*560T>A ENSP00000508909.1:n.*560T>A
ENST00000688158.1:c.*1085T>A ENSP00000509254.1:n.*1085T>A
ENST00000688308.1:c.974T>A ENSP00000508752.1:p.Leu325His
ENST00000688922.1:c.895T>A
ENST00000693560.1:c.1493T>A ENSP00000509861.1:p.Leu498His
ENST00000371953.8:c.974T>A MANE Select ENSP00000361021.3:p.Leu325His
ENST00000371953.7:c.974T>A ENSP00000361021.3:p.Leu325His
ENST00000472832.2:c.401T>A ENSP00000483066.1:p.Leu134His
NM_000314.5:c.974T>A NP_000305.3:p.Leu325His
NM_000314.6:c.974T>A NP_000305.3:p.Leu325His
NM_001304717.2:c.1493T>A NP_001291646.2:p.Leu498His
NM_001304718.1:c.383T>A NP_001291647.1:p.Leu128His
XM_006717926.2:c.929T>A XP_006717989.1:p.Leu310His
XM_011539981.1:c.974T>A XP_011538283.1:p.Leu325His
XM_011539982.1:c.878T>A XP_011538284.1:p.Leu293His
XR_945791.1:n.1544T>A
NM_000314.7:c.974T>A NP_000305.3:p.Leu325His
NM_001304717.5:c.1493T>A NP_001291646.4:p.Leu498His
NM_001304718.2:c.383T>A NP_001291647.1:p.Leu128His
NM_000314.8:c.974T>A MANE Select NP_000305.3:p.Leu325His