Canonical Allele Identifier: CA377487395
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1258A>C ENSP00000514759.2:p.Asn420His
ENST00000710265.1:c.*194A>C ENSP00000518161.1:n.*194A>C
ENST00000688158.2:n.1900A>C
ENST00000688922.2:c.*995A>C ENSP00000508742.2:n.*995A>C
ENST00000700021.1:c.1120A>C ENSP00000514757.1:p.Asn374His
ENST00000700022.1:c.*504A>C ENSP00000514758.1:n.*504A>C
ENST00000700023.1:n.2323A>C
ENST00000700024.1:n.2557A>C
ENST00000706954.1:c.1165A>C ENSP00000516674.1:p.Asn389His
ENST00000706955.1:c.*1200A>C ENSP00000516675.1:n.*1200A>C
ENST00000686459.1:c.*751A>C ENSP00000508909.1:n.*751A>C
ENST00000688158.1:c.*1276A>C ENSP00000509254.1:n.*1276A>C
ENST00000688308.1:c.1165A>C ENSP00000508752.1:p.Asn389His
ENST00000688922.1:c.1086A>C
ENST00000693560.1:c.1684A>C ENSP00000509861.1:p.Asn562His
ENST00000371953.8:c.1165A>C MANE Select ENSP00000361021.3:p.Asn389His
ENST00000371953.7:c.1165A>C ENSP00000361021.3:p.Asn389His
NM_000314.5:c.1165A>C NP_000305.3:p.Asn389His
NM_000314.6:c.1165A>C NP_000305.3:p.Asn389His
NM_001304717.2:c.1684A>C NP_001291646.2:p.Asn562His
NM_001304718.1:c.574A>C NP_001291647.1:p.Asn192His
XM_006717926.2:c.1120A>C XP_006717989.1:p.Asn374His
XM_011539982.1:c.1069A>C XP_011538284.1:p.Asn357His
XR_945791.1:n.1735A>C
NM_000314.7:c.1165A>C NP_000305.3:p.Asn389His
NM_001304717.5:c.1684A>C NP_001291646.4:p.Asn562His
NM_001304718.2:c.574A>C NP_001291647.1:p.Asn192His
NM_000314.8:c.1165A>C MANE Select NP_000305.3:p.Asn389His