Canonical Allele Identifier: CA060268
Community Standard Title: NM_000314.8(PTEN):c.577C>T (p.Leu193=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952202C>T , CM000672.2:g.87952202C>T GRCh38
NC_000010.10:g.89711959C>T , CM000672.1:g.89711959C>T GRCh37
NC_000010.9:g.89701939C>T NCBI36
NG_007466.2:g.93764C>T , LRG_311:g.93764C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.577C>T MANE Select NP_000305.3:p.Leu193=
ENST00000371953.8:c.577C>T MANE Select ENSP00000361021.3:p.Leu193=
NM_000314.5:c.577C>T NP_000305.3:p.Leu193=
NM_000314.6:c.577C>T NP_000305.3:p.Leu193=
NM_000314.7:c.577C>T NP_000305.3:p.Leu193=
NM_001304717.2:c.1096C>T NP_001291646.2:p.Leu366=
NM_001304717.5:c.1096C>T NP_001291646.4:p.Leu366=
NM_001304718.1:c.-15C>T NP_001291647.1:n.-15C>T
NM_001304718.2:c.-15C>T NP_001291647.1:n.-15C>T
ENST00000371953.7:c.577C>T ENSP00000361021.3:p.Leu193=
ENST00000472832.2:c.4C>T ENSP00000483066.1:p.Leu2=
ENST00000472832.3:c.577C>T ENSP00000483066.2:p.Leu193=
ENST00000686459.1:c.*163C>T ENSP00000508909.1:n.*163C>T
ENST00000688158.1:c.*688C>T ENSP00000509254.1:n.*688C>T
ENST00000688158.2:n.1312C>T
ENST00000688308.1:c.577C>T ENSP00000508752.1:p.Leu193=
ENST00000688922.1:c.498C>T
ENST00000688922.2:c.*407C>T ENSP00000508742.2:n.*407C>T
ENST00000693560.1:c.1096C>T ENSP00000509861.1:p.Leu366=
ENST00000700021.1:c.532C>T ENSP00000514757.1:p.Leu178=
ENST00000700022.1:c.493-5651C>T ENSP00000514758.1:n.493-5651C>T
ENST00000700023.1:n.1735C>T
ENST00000700024.1:n.1969C>T
ENST00000700025.1:n.1346C>T
ENST00000700029.1:c.411C>T
ENST00000700029.2:c.577C>T ENSP00000514759.2:p.Leu193=
ENST00000706954.1:c.577C>T ENSP00000516674.1:p.Leu193=
ENST00000706955.1:c.*612C>T ENSP00000516675.1:n.*612C>T
ENST00000710265.1:c.577C>T ENSP00000518161.1:p.Leu193=
XM_006717926.2:c.532C>T XP_006717989.1:p.Leu178=
XM_011539981.1:c.577C>T XP_011538283.1:p.Leu193=
XM_011539982.1:c.481C>T XP_011538284.1:p.Leu161=
XR_945791.1:n.1205-5651C>T