Canonical Allele Identifier: CA377487108
Community Standard Title: NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965294T>C , CM000672.2:g.87965294T>C GRCh38
NC_000010.10:g.89725051T>C , CM000672.1:g.89725051T>C GRCh37
NC_000010.9:g.89715031T>C NCBI36
NG_007466.2:g.106856T>C , LRG_311:g.106856T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.1034T>C MANE Select NP_000305.3:p.Leu345Pro
ENST00000371953.8:c.1034T>C MANE Select ENSP00000361021.3:p.Leu345Pro
NM_000314.5:c.1034T>C NP_000305.3:p.Leu345Pro
NM_000314.6:c.1034T>C NP_000305.3:p.Leu345Pro
NM_000314.7:c.1034T>C NP_000305.3:p.Leu345Pro
NM_001304717.2:c.1553T>C NP_001291646.2:p.Leu518Pro
NM_001304717.5:c.1553T>C NP_001291646.4:p.Leu518Pro
NM_001304718.1:c.443T>C NP_001291647.1:p.Leu148Pro
NM_001304718.2:c.443T>C NP_001291647.1:p.Leu148Pro
ENST00000371953.7:c.1034T>C ENSP00000361021.3:p.Leu345Pro
ENST00000686459.1:c.*620T>C ENSP00000508909.1:n.*620T>C
ENST00000688158.1:c.*1145T>C ENSP00000509254.1:n.*1145T>C
ENST00000688158.2:n.1769T>C
ENST00000688308.1:c.1034T>C ENSP00000508752.1:p.Leu345Pro
ENST00000688922.1:c.955T>C
ENST00000688922.2:c.*864T>C ENSP00000508742.2:n.*864T>C
ENST00000693560.1:c.1553T>C ENSP00000509861.1:p.Leu518Pro
ENST00000700021.1:c.989T>C ENSP00000514757.1:p.Leu330Pro
ENST00000700022.1:c.*373T>C ENSP00000514758.1:n.*373T>C
ENST00000700023.1:n.2192T>C
ENST00000700024.1:n.2426T>C
ENST00000700029.2:c.1127T>C ENSP00000514759.2:p.Leu376Pro
ENST00000706954.1:c.1034T>C ENSP00000516674.1:p.Leu345Pro
ENST00000706955.1:c.*1069T>C ENSP00000516675.1:n.*1069T>C
ENST00000710265.1:c.*63T>C ENSP00000518161.1:n.*63T>C
XM_006717926.2:c.989T>C XP_006717989.1:p.Leu330Pro
XM_011539982.1:c.938T>C XP_011538284.1:p.Leu313Pro
XR_945791.1:n.1604T>C