Canonical Allele Identifier: CA377484957
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 3070126
ClinVar RCV Id: RCV004010158

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957949C>T , CM000672.2:g.87957949C>T GRCh38
NC_000010.10:g.89717706C>T , CM000672.1:g.89717706C>T GRCh37
NC_000010.9:g.89707686C>T NCBI36
NG_007466.2:g.99511C>T , LRG_311:g.99511C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.731C>T ENSP00000514759.2:p.Pro244Leu
ENST00000710265.1:c.731C>T ENSP00000518161.1:p.Pro244Leu
ENST00000472832.3:c.731C>T ENSP00000483066.2:p.Pro244Leu
ENST00000688158.2:n.1466C>T
ENST00000688922.2:c.*561C>T ENSP00000508742.2:n.*561C>T
ENST00000700021.1:c.686C>T ENSP00000514757.1:p.Pro229Leu
ENST00000700022.1:c.*70C>T ENSP00000514758.1:n.*70C>T
ENST00000700023.1:n.1889C>T
ENST00000700024.1:n.2123C>T
ENST00000700025.1:n.1500C>T
ENST00000700026.1:n.368C>T
ENST00000700029.1:c.565C>T
ENST00000706954.1:c.731C>T ENSP00000516674.1:p.Pro244Leu
ENST00000706955.1:c.*766C>T ENSP00000516675.1:n.*766C>T
ENST00000686459.1:c.*317C>T ENSP00000508909.1:n.*317C>T
ENST00000688158.1:c.*842C>T ENSP00000509254.1:n.*842C>T
ENST00000688308.1:c.731C>T ENSP00000508752.1:p.Pro244Leu
ENST00000688922.1:c.652C>T
ENST00000693560.1:c.1250C>T ENSP00000509861.1:p.Pro417Leu
ENST00000371953.8:c.731C>T MANE Select ENSP00000361021.3:p.Pro244Leu
ENST00000371953.7:c.731C>T ENSP00000361021.3:p.Pro244Leu
ENST00000472832.2:c.158C>T ENSP00000483066.1:p.Pro53Leu
NM_000314.5:c.731C>T NP_000305.3:p.Pro244Leu
NM_000314.6:c.731C>T NP_000305.3:p.Pro244Leu
NM_001304717.2:c.1250C>T NP_001291646.2:p.Pro417Leu
NM_001304718.1:c.140C>T NP_001291647.1:p.Pro47Leu
XM_006717926.2:c.686C>T XP_006717989.1:p.Pro229Leu
XM_011539981.1:c.731C>T XP_011538283.1:p.Pro244Leu
XM_011539982.1:c.635C>T XP_011538284.1:p.Pro212Leu
XR_945791.1:n.1301C>T
NM_000314.7:c.731C>T NP_000305.3:p.Pro244Leu
NM_001304717.5:c.1250C>T NP_001291646.4:p.Pro417Leu
NM_001304718.2:c.140C>T NP_001291647.1:p.Pro47Leu
NM_000314.8:c.731C>T MANE Select NP_000305.3:p.Pro244Leu