Canonical Allele Identifier: CA377487278
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965375A>T , CM000672.2:g.87965375A>T GRCh38
NC_000010.10:g.89725132A>T , CM000672.1:g.89725132A>T GRCh37
NC_000010.9:g.89715112A>T NCBI36
NG_007466.2:g.106937A>T , LRG_311:g.106937A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1208A>T ENSP00000514759.2:p.Asn403Ile
ENST00000710265.1:c.*144A>T ENSP00000518161.1:n.*144A>T
ENST00000688158.2:n.1850A>T
ENST00000688922.2:c.*945A>T ENSP00000508742.2:n.*945A>T
ENST00000700021.1:c.1070A>T ENSP00000514757.1:p.Asn357Ile
ENST00000700022.1:c.*454A>T ENSP00000514758.1:n.*454A>T
ENST00000700023.1:n.2273A>T
ENST00000700024.1:n.2507A>T
ENST00000706954.1:c.1115A>T ENSP00000516674.1:p.Asn372Ile
ENST00000706955.1:c.*1150A>T ENSP00000516675.1:n.*1150A>T
ENST00000686459.1:c.*701A>T ENSP00000508909.1:n.*701A>T
ENST00000688158.1:c.*1226A>T ENSP00000509254.1:n.*1226A>T
ENST00000688308.1:c.1115A>T ENSP00000508752.1:p.Asn372Ile
ENST00000688922.1:c.1036A>T
ENST00000693560.1:c.1634A>T ENSP00000509861.1:p.Asn545Ile
ENST00000371953.8:c.1115A>T MANE Select ENSP00000361021.3:p.Asn372Ile
ENST00000371953.7:c.1115A>T ENSP00000361021.3:p.Asn372Ile
NM_000314.5:c.1115A>T NP_000305.3:p.Asn372Ile
NM_000314.6:c.1115A>T NP_000305.3:p.Asn372Ile
NM_001304717.2:c.1634A>T NP_001291646.2:p.Asn545Ile
NM_001304718.1:c.524A>T NP_001291647.1:p.Asn175Ile
XM_006717926.2:c.1070A>T XP_006717989.1:p.Asn357Ile
XM_011539982.1:c.1019A>T XP_011538284.1:p.Asn340Ile
XR_945791.1:n.1685A>T
NM_000314.7:c.1115A>T NP_000305.3:p.Asn372Ile
NM_001304717.5:c.1634A>T NP_001291646.4:p.Asn545Ile
NM_001304718.2:c.524A>T NP_001291647.1:p.Asn175Ile
NM_000314.8:c.1115A>T MANE Select NP_000305.3:p.Asn372Ile