Canonical Allele Identifier: CA377487397
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965425A>T , CM000672.2:g.87965425A>T GRCh38
NC_000010.10:g.89725182A>T , CM000672.1:g.89725182A>T GRCh37
NC_000010.9:g.89715162A>T NCBI36
NG_007466.2:g.106987A>T , LRG_311:g.106987A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1258A>T ENSP00000514759.2:p.Asn420Tyr
ENST00000710265.1:c.*194A>T ENSP00000518161.1:n.*194A>T
ENST00000688158.2:n.1900A>T
ENST00000688922.2:c.*995A>T ENSP00000508742.2:n.*995A>T
ENST00000700021.1:c.1120A>T ENSP00000514757.1:p.Asn374Tyr
ENST00000700022.1:c.*504A>T ENSP00000514758.1:n.*504A>T
ENST00000700023.1:n.2323A>T
ENST00000700024.1:n.2557A>T
ENST00000706954.1:c.1165A>T ENSP00000516674.1:p.Asn389Tyr
ENST00000706955.1:c.*1200A>T ENSP00000516675.1:n.*1200A>T
ENST00000686459.1:c.*751A>T ENSP00000508909.1:n.*751A>T
ENST00000688158.1:c.*1276A>T ENSP00000509254.1:n.*1276A>T
ENST00000688308.1:c.1165A>T ENSP00000508752.1:p.Asn389Tyr
ENST00000688922.1:c.1086A>T
ENST00000693560.1:c.1684A>T ENSP00000509861.1:p.Asn562Tyr
ENST00000371953.8:c.1165A>T MANE Select ENSP00000361021.3:p.Asn389Tyr
ENST00000371953.7:c.1165A>T ENSP00000361021.3:p.Asn389Tyr
NM_000314.5:c.1165A>T NP_000305.3:p.Asn389Tyr
NM_000314.6:c.1165A>T NP_000305.3:p.Asn389Tyr
NM_001304717.2:c.1684A>T NP_001291646.2:p.Asn562Tyr
NM_001304718.1:c.574A>T NP_001291647.1:p.Asn192Tyr
XM_006717926.2:c.1120A>T XP_006717989.1:p.Asn374Tyr
XM_011539982.1:c.1069A>T XP_011538284.1:p.Asn357Tyr
XR_945791.1:n.1735A>T
NM_000314.7:c.1165A>T NP_000305.3:p.Asn389Tyr
NM_001304717.5:c.1684A>T NP_001291646.4:p.Asn562Tyr
NM_001304718.2:c.574A>T NP_001291647.1:p.Asn192Tyr
NM_000314.8:c.1165A>T MANE Select NP_000305.3:p.Asn389Tyr