Canonical Allele Identifier: CA377484969
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132277306

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957957T>A , CM000672.2:g.87957957T>A GRCh38
NC_000010.10:g.89717714T>A , CM000672.1:g.89717714T>A GRCh37
NC_000010.9:g.89707694T>A NCBI36
NG_007466.2:g.99519T>A , LRG_311:g.99519T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.739T>A ENSP00000514759.2:p.Leu247Ile
ENST00000710265.1:c.739T>A ENSP00000518161.1:p.Leu247Ile
ENST00000472832.3:c.739T>A ENSP00000483066.2:p.Leu247Ile
ENST00000688158.2:n.1474T>A
ENST00000688922.2:c.*569T>A ENSP00000508742.2:n.*569T>A
ENST00000700021.1:c.694T>A ENSP00000514757.1:p.Leu232Ile
ENST00000700022.1:c.*78T>A ENSP00000514758.1:n.*78T>A
ENST00000700023.1:n.1897T>A
ENST00000700024.1:n.2131T>A
ENST00000700025.1:n.1508T>A
ENST00000700026.1:n.376T>A
ENST00000700029.1:c.573T>A
ENST00000706954.1:c.739T>A ENSP00000516674.1:p.Leu247Ile
ENST00000706955.1:c.*774T>A ENSP00000516675.1:n.*774T>A
ENST00000686459.1:c.*325T>A ENSP00000508909.1:n.*325T>A
ENST00000688158.1:c.*850T>A ENSP00000509254.1:n.*850T>A
ENST00000688308.1:c.739T>A ENSP00000508752.1:p.Leu247Ile
ENST00000688922.1:c.660T>A
ENST00000693560.1:c.1258T>A ENSP00000509861.1:p.Leu420Ile
ENST00000371953.8:c.739T>A MANE Select ENSP00000361021.3:p.Leu247Ile
ENST00000371953.7:c.739T>A ENSP00000361021.3:p.Leu247Ile
ENST00000472832.2:c.166T>A ENSP00000483066.1:p.Leu56Ile
NM_000314.5:c.739T>A NP_000305.3:p.Leu247Ile
NM_000314.6:c.739T>A NP_000305.3:p.Leu247Ile
NM_001304717.2:c.1258T>A NP_001291646.2:p.Leu420Ile
NM_001304718.1:c.148T>A NP_001291647.1:p.Leu50Ile
XM_006717926.2:c.694T>A XP_006717989.1:p.Leu232Ile
XM_011539981.1:c.739T>A XP_011538283.1:p.Leu247Ile
XM_011539982.1:c.643T>A XP_011538284.1:p.Leu215Ile
XR_945791.1:n.1309T>A
NM_000314.7:c.739T>A NP_000305.3:p.Leu247Ile
NM_001304717.5:c.1258T>A NP_001291646.4:p.Leu420Ile
NM_001304718.2:c.148T>A NP_001291647.1:p.Leu50Ile
NM_000314.8:c.739T>A MANE Select NP_000305.3:p.Leu247Ile