Canonical Allele Identifier: CA377485011
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 480942
dbSNP Id: rs1554825235
COSMIC: COSM5230

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957976T>A , CM000672.2:g.87957976T>A GRCh38
NC_000010.10:g.89717733T>A , CM000672.1:g.89717733T>A GRCh37
NC_000010.9:g.89707713T>A NCBI36
NG_007466.2:g.99538T>A , LRG_311:g.99538T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.758T>A ENSP00000514759.2:p.Ile253Asn
ENST00000710265.1:c.758T>A ENSP00000518161.1:p.Ile253Asn
ENST00000472832.3:c.758T>A ENSP00000483066.2:p.Ile253Asn
ENST00000688158.2:n.1493T>A
ENST00000688922.2:c.*588T>A ENSP00000508742.2:n.*588T>A
ENST00000700021.1:c.713T>A ENSP00000514757.1:p.Ile238Asn
ENST00000700022.1:c.*97T>A ENSP00000514758.1:n.*97T>A
ENST00000700023.1:n.1916T>A
ENST00000700024.1:n.2150T>A
ENST00000700025.1:n.1527T>A
ENST00000700026.1:n.395T>A
ENST00000700029.1:c.592T>A
ENST00000706954.1:c.758T>A ENSP00000516674.1:p.Ile253Asn
ENST00000706955.1:c.*793T>A ENSP00000516675.1:n.*793T>A
ENST00000686459.1:c.*344T>A ENSP00000508909.1:n.*344T>A
ENST00000688158.1:c.*869T>A ENSP00000509254.1:n.*869T>A
ENST00000688308.1:c.758T>A ENSP00000508752.1:p.Ile253Asn
ENST00000688922.1:c.679T>A
ENST00000693560.1:c.1277T>A ENSP00000509861.1:p.Ile426Asn
ENST00000371953.8:c.758T>A MANE Select ENSP00000361021.3:p.Ile253Asn
ENST00000371953.7:c.758T>A ENSP00000361021.3:p.Ile253Asn
ENST00000472832.2:c.185T>A ENSP00000483066.1:p.Ile62Asn
NM_000314.5:c.758T>A NP_000305.3:p.Ile253Asn
NM_000314.6:c.758T>A NP_000305.3:p.Ile253Asn
NM_001304717.2:c.1277T>A NP_001291646.2:p.Ile426Asn
NM_001304718.1:c.167T>A NP_001291647.1:p.Ile56Asn
XM_006717926.2:c.713T>A XP_006717989.1:p.Ile238Asn
XM_011539981.1:c.758T>A XP_011538283.1:p.Ile253Asn
XM_011539982.1:c.662T>A XP_011538284.1:p.Ile221Asn
XR_945791.1:n.1328T>A
NM_000314.7:c.758T>A NP_000305.3:p.Ile253Asn
NM_001304717.5:c.1277T>A NP_001291646.4:p.Ile426Asn
NM_001304718.2:c.167T>A NP_001291647.1:p.Ile56Asn
NM_000314.8:c.758T>A MANE Select NP_000305.3:p.Ile253Asn