Canonical Allele Identifier: CA1926174643
Community Standard Title: NM_000314.8(PTEN):c.335T= (p.Leu112=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933094T= , CM000672.2:g.87933094T= GRCh38
NC_000010.10:g.89692851T= , CM000672.1:g.89692851T= GRCh37
NC_000010.9:g.89682831T= NCBI36
NG_007466.2:g.74656T= , LRG_311:g.74656T=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.335T= MANE Select NP_000305.3:p.Leu112=
ENST00000371953.8:c.335T= MANE Select ENSP00000361021.3:p.Leu112=
NM_000314.5:c.335T= NP_000305.3:p.Leu112=
NM_000314.6:c.335T= NP_000305.3:p.Leu112=
NM_000314.7:c.335T= NP_000305.3:p.Leu112=
NM_001304717.2:c.854T= NP_001291646.2:p.Leu285=
NM_001304717.5:c.854T= NP_001291646.4:p.Leu285=
NM_001304718.1:c.-416T= NP_001291647.1:n.-416T=
NM_001304718.2:c.-416T= NP_001291647.1:n.-416T=
ENST00000371953.7:c.335T= ENSP00000361021.3:p.Leu112=
ENST00000472832.3:c.335T= ENSP00000483066.2:p.Leu112=
ENST00000498703.1:n.161T=
ENST00000610634.1:c.233T= ENSP00000477517.1:p.Leu78=
ENST00000686459.1:c.335T= ENSP00000508909.1:p.Leu112=
ENST00000688158.1:c.*446T= ENSP00000509254.1:n.*446T=
ENST00000688158.2:n.1070T=
ENST00000688308.1:c.335T= ENSP00000508752.1:p.Leu112=
ENST00000688922.1:c.256T=
ENST00000688922.2:c.*165T= ENSP00000508742.2:n.*165T=
ENST00000693560.1:c.854T= ENSP00000509861.1:p.Leu285=
ENST00000700021.1:c.290T= ENSP00000514757.1:p.Leu97=
ENST00000700022.1:c.335T= ENSP00000514758.1:p.Leu112=
ENST00000700029.1:c.169T=
ENST00000700029.2:c.335T= ENSP00000514759.2:p.Leu112=
ENST00000706954.1:c.335T= ENSP00000516674.1:p.Leu112=
ENST00000706955.1:c.*370T= ENSP00000516675.1:n.*370T=
ENST00000710265.1:c.335T= ENSP00000518161.1:p.Leu112=
XM_006717926.2:c.290T= XP_006717989.1:p.Leu97=
XM_011539981.1:c.335T= XP_011538283.1:p.Leu112=
XM_011539982.1:c.239T= XP_011538284.1:p.Leu80=
XR_945789.1:n.1047T=
XR_945790.1:n.1047T=
XR_945791.1:n.1047T=