Canonical Allele Identifier: CA377485881
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132282787

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961020G>T , CM000672.2:g.87961020G>T GRCh38
NC_000010.10:g.89720777G>T , CM000672.1:g.89720777G>T GRCh37
NC_000010.9:g.89710757G>T NCBI36
NG_007466.2:g.102582G>T , LRG_311:g.102582G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1021G>T ENSP00000514759.2:p.Asp341Tyr
ENST00000710265.1:c.928G>T ENSP00000518161.1:p.Asp310Tyr
ENST00000472832.3:c.928G>T ENSP00000483066.2:p.Asp310Tyr
ENST00000688158.2:n.1663G>T
ENST00000688922.2:c.*758G>T ENSP00000508742.2:n.*758G>T
ENST00000700021.1:c.883G>T ENSP00000514757.1:p.Asp295Tyr
ENST00000700022.1:c.*267G>T ENSP00000514758.1:n.*267G>T
ENST00000700023.1:n.2086G>T
ENST00000700024.1:n.2320G>T
ENST00000700025.1:n.1697G>T
ENST00000700026.1:n.565G>T
ENST00000706954.1:c.928G>T ENSP00000516674.1:p.Asp310Tyr
ENST00000706955.1:c.*963G>T ENSP00000516675.1:n.*963G>T
ENST00000686459.1:c.*514G>T ENSP00000508909.1:n.*514G>T
ENST00000688158.1:c.*1039G>T ENSP00000509254.1:n.*1039G>T
ENST00000688308.1:c.928G>T ENSP00000508752.1:p.Asp310Tyr
ENST00000688922.1:c.849G>T
ENST00000693560.1:c.1447G>T ENSP00000509861.1:p.Asp483Tyr
ENST00000371953.8:c.928G>T MANE Select ENSP00000361021.3:p.Asp310Tyr
ENST00000371953.7:c.928G>T ENSP00000361021.3:p.Asp310Tyr
ENST00000472832.2:c.355G>T ENSP00000483066.1:p.Asp119Tyr
NM_000314.5:c.928G>T NP_000305.3:p.Asp310Tyr
NM_000314.6:c.928G>T NP_000305.3:p.Asp310Tyr
NM_001304717.2:c.1447G>T NP_001291646.2:p.Asp483Tyr
NM_001304718.1:c.337G>T NP_001291647.1:p.Asp113Tyr
XM_006717926.2:c.883G>T XP_006717989.1:p.Asp295Tyr
XM_011539981.1:c.928G>T XP_011538283.1:p.Asp310Tyr
XM_011539982.1:c.832G>T XP_011538284.1:p.Asp278Tyr
XR_945791.1:n.1498G>T
NM_000314.7:c.928G>T NP_000305.3:p.Asp310Tyr
NM_001304717.5:c.1447G>T NP_001291646.4:p.Asp483Tyr
NM_001304718.2:c.337G>T NP_001291647.1:p.Asp113Tyr
NM_000314.8:c.928G>T MANE Select NP_000305.3:p.Asp310Tyr