Canonical Allele Identifier: CA377486117
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132283533

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961092A>C , CM000672.2:g.87961092A>C GRCh38
NC_000010.10:g.89720849A>C , CM000672.1:g.89720849A>C GRCh37
NC_000010.9:g.89710829A>C NCBI36
NG_007466.2:g.102654A>C , LRG_311:g.102654A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1093A>C ENSP00000514759.2:p.Asn365His
ENST00000710265.1:c.1000A>C ENSP00000518161.1:p.Asn334His
ENST00000472832.3:c.1000A>C ENSP00000483066.2:p.Asn334His
ENST00000688158.2:n.1735A>C
ENST00000688922.2:c.*830A>C ENSP00000508742.2:n.*830A>C
ENST00000700021.1:c.955A>C ENSP00000514757.1:p.Asn319His
ENST00000700022.1:c.*339A>C ENSP00000514758.1:n.*339A>C
ENST00000700023.1:n.2158A>C
ENST00000700024.1:n.2392A>C
ENST00000700025.1:n.1769A>C
ENST00000700026.1:n.637A>C
ENST00000706954.1:c.1000A>C ENSP00000516674.1:p.Asn334His
ENST00000706955.1:c.*1035A>C ENSP00000516675.1:n.*1035A>C
ENST00000686459.1:c.*586A>C ENSP00000508909.1:n.*586A>C
ENST00000688158.1:c.*1111A>C ENSP00000509254.1:n.*1111A>C
ENST00000688308.1:c.1000A>C ENSP00000508752.1:p.Asn334His
ENST00000688922.1:c.921A>C
ENST00000693560.1:c.1519A>C ENSP00000509861.1:p.Asn507His
ENST00000371953.8:c.1000A>C MANE Select ENSP00000361021.3:p.Asn334His
ENST00000371953.7:c.1000A>C ENSP00000361021.3:p.Asn334His
ENST00000472832.2:c.427A>C ENSP00000483066.1:p.Asn143His
NM_000314.5:c.1000A>C NP_000305.3:p.Asn334His
NM_000314.6:c.1000A>C NP_000305.3:p.Asn334His
NM_001304717.2:c.1519A>C NP_001291646.2:p.Asn507His
NM_001304718.1:c.409A>C NP_001291647.1:p.Asn137His
XM_006717926.2:c.955A>C XP_006717989.1:p.Asn319His
XM_011539981.1:c.1000A>C XP_011538283.1:p.Asn334His
XM_011539982.1:c.904A>C XP_011538284.1:p.Asn302His
XR_945791.1:n.1570A>C
NM_000314.7:c.1000A>C NP_000305.3:p.Asn334His
NM_001304717.5:c.1519A>C NP_001291646.4:p.Asn507His
NM_001304718.2:c.409A>C NP_001291647.1:p.Asn137His
NM_000314.8:c.1000A>C MANE Select NP_000305.3:p.Asn334His