Canonical Allele Identifier: CA377486156
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1564568679
COSMIC: COSM5148

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961108C>T , CM000672.2:g.87961108C>T GRCh38
NC_000010.10:g.89720865C>T , CM000672.1:g.89720865C>T GRCh37
NC_000010.9:g.89710845C>T NCBI36
NG_007466.2:g.102670C>T , LRG_311:g.102670C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1109C>T ENSP00000514759.2:p.Pro370Leu
ENST00000710265.1:c.1016C>T ENSP00000518161.1:p.Pro339Leu
ENST00000472832.3:c.1016C>T ENSP00000483066.2:p.Pro339Leu
ENST00000688158.2:n.1751C>T
ENST00000688922.2:c.*846C>T ENSP00000508742.2:n.*846C>T
ENST00000700021.1:c.971C>T ENSP00000514757.1:p.Pro324Leu
ENST00000700022.1:c.*355C>T ENSP00000514758.1:n.*355C>T
ENST00000700023.1:n.2174C>T
ENST00000700024.1:n.2408C>T
ENST00000700025.1:n.1785C>T
ENST00000700026.1:n.653C>T
ENST00000706954.1:c.1016C>T ENSP00000516674.1:p.Pro339Leu
ENST00000706955.1:c.*1051C>T ENSP00000516675.1:n.*1051C>T
ENST00000686459.1:c.*602C>T ENSP00000508909.1:n.*602C>T
ENST00000688158.1:c.*1127C>T ENSP00000509254.1:n.*1127C>T
ENST00000688308.1:c.1016C>T ENSP00000508752.1:p.Pro339Leu
ENST00000688922.1:c.937C>T
ENST00000693560.1:c.1535C>T ENSP00000509861.1:p.Pro512Leu
ENST00000371953.8:c.1016C>T MANE Select ENSP00000361021.3:p.Pro339Leu
ENST00000371953.7:c.1016C>T ENSP00000361021.3:p.Pro339Leu
ENST00000472832.2:c.443C>T ENSP00000483066.1:p.Pro148Leu
NM_000314.5:c.1016C>T NP_000305.3:p.Pro339Leu
NM_000314.6:c.1016C>T NP_000305.3:p.Pro339Leu
NM_001304717.2:c.1535C>T NP_001291646.2:p.Pro512Leu
NM_001304718.1:c.425C>T NP_001291647.1:p.Pro142Leu
XM_006717926.2:c.971C>T XP_006717989.1:p.Pro324Leu
XM_011539981.1:c.1016C>T XP_011538283.1:p.Pro339Leu
XM_011539982.1:c.920C>T XP_011538284.1:p.Pro307Leu
XR_945791.1:n.1586C>T
NM_000314.7:c.1016C>T NP_000305.3:p.Pro339Leu
NM_001304717.5:c.1535C>T NP_001291646.4:p.Pro512Leu
NM_001304718.2:c.425C>T NP_001291647.1:p.Pro142Leu
NM_000314.8:c.1016C>T MANE Select NP_000305.3:p.Pro339Leu