Canonical Allele Identifier: CA16619054
Community Standard Title: NM_000314.8(PTEN):c.454C>T (p.Leu152=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933213C>T , CM000672.2:g.87933213C>T GRCh38
NC_000010.10:g.89692970C>T , CM000672.1:g.89692970C>T GRCh37
NC_000010.9:g.89682950C>T NCBI36
NG_007466.2:g.74775C>T , LRG_311:g.74775C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.454C>T MANE Select NP_000305.3:p.Leu152=
ENST00000371953.8:c.454C>T MANE Select ENSP00000361021.3:p.Leu152=
NM_000314.5:c.454C>T NP_000305.3:p.Leu152=
NM_000314.6:c.454C>T NP_000305.3:p.Leu152=
NM_000314.7:c.454C>T NP_000305.3:p.Leu152=
NM_001304717.2:c.973C>T NP_001291646.2:p.Leu325=
NM_001304717.5:c.973C>T NP_001291646.4:p.Leu325=
NM_001304718.1:c.-297C>T NP_001291647.1:n.-297C>T
NM_001304718.2:c.-297C>T NP_001291647.1:n.-297C>T
ENST00000371953.7:c.454C>T ENSP00000361021.3:p.Leu152=
ENST00000472832.3:c.454C>T ENSP00000483066.2:p.Leu152=
ENST00000498703.1:n.280C>T
ENST00000610634.1:c.352C>T ENSP00000477517.1:p.Leu118=
ENST00000686459.1:c.454C>T ENSP00000508909.1:p.Leu152=
ENST00000688158.1:c.*565C>T ENSP00000509254.1:n.*565C>T
ENST00000688158.2:n.1189C>T
ENST00000688308.1:c.454C>T ENSP00000508752.1:p.Leu152=
ENST00000688922.1:c.375C>T
ENST00000688922.2:c.*284C>T ENSP00000508742.2:n.*284C>T
ENST00000693560.1:c.973C>T ENSP00000509861.1:p.Leu325=
ENST00000700021.1:c.409C>T ENSP00000514757.1:p.Leu137=
ENST00000700022.1:c.454C>T ENSP00000514758.1:p.Leu152=
ENST00000700029.1:c.288C>T
ENST00000700029.2:c.454C>T ENSP00000514759.2:p.Leu152=
ENST00000706954.1:c.454C>T ENSP00000516674.1:p.Leu152=
ENST00000706955.1:c.*489C>T ENSP00000516675.1:n.*489C>T
ENST00000710265.1:c.454C>T ENSP00000518161.1:p.Leu152=
XM_006717926.2:c.409C>T XP_006717989.1:p.Leu137=
XM_011539981.1:c.454C>T XP_011538283.1:p.Leu152=
XM_011539982.1:c.358C>T XP_011538284.1:p.Leu120=
XR_945789.1:n.1166C>T
XR_945790.1:n.1166C>T
XR_945791.1:n.1166C>T