Canonical Allele Identifier: CA377482291
Community Standard Title: NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933132A>G , CM000672.2:g.87933132A>G GRCh38
NC_000010.10:g.89692889A>G , CM000672.1:g.89692889A>G GRCh37
NC_000010.9:g.89682869A>G NCBI36
NG_007466.2:g.74694A>G , LRG_311:g.74694A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.373A>G MANE Select NP_000305.3:p.Lys125Glu
ENST00000371953.8:c.373A>G MANE Select ENSP00000361021.3:p.Lys125Glu
NM_000314.5:c.373A>G NP_000305.3:p.Lys125Glu
NM_000314.6:c.373A>G NP_000305.3:p.Lys125Glu
NM_000314.7:c.373A>G NP_000305.3:p.Lys125Glu
NM_001304717.2:c.892A>G NP_001291646.2:p.Lys298Glu
NM_001304717.5:c.892A>G NP_001291646.4:p.Lys298Glu
NM_001304718.1:c.-378A>G NP_001291647.1:n.-378A>G
NM_001304718.2:c.-378A>G NP_001291647.1:n.-378A>G
ENST00000371953.7:c.373A>G ENSP00000361021.3:p.Lys125Glu
ENST00000472832.3:c.373A>G ENSP00000483066.2:p.Lys125Glu
ENST00000498703.1:n.199A>G
ENST00000610634.1:c.271A>G ENSP00000477517.1:p.Lys91Glu
ENST00000686459.1:c.373A>G ENSP00000508909.1:p.Lys125Glu
ENST00000688158.1:c.*484A>G ENSP00000509254.1:n.*484A>G
ENST00000688158.2:n.1108A>G
ENST00000688308.1:c.373A>G ENSP00000508752.1:p.Lys125Glu
ENST00000688922.1:c.294A>G
ENST00000688922.2:c.*203A>G ENSP00000508742.2:n.*203A>G
ENST00000693560.1:c.892A>G ENSP00000509861.1:p.Lys298Glu
ENST00000700021.1:c.328A>G ENSP00000514757.1:p.Lys110Glu
ENST00000700022.1:c.373A>G ENSP00000514758.1:p.Lys125Glu
ENST00000700029.1:c.207A>G
ENST00000700029.2:c.373A>G ENSP00000514759.2:p.Lys125Glu
ENST00000706954.1:c.373A>G ENSP00000516674.1:p.Lys125Glu
ENST00000706955.1:c.*408A>G ENSP00000516675.1:n.*408A>G
ENST00000710265.1:c.373A>G ENSP00000518161.1:p.Lys125Glu
XM_006717926.2:c.328A>G XP_006717989.1:p.Lys110Glu
XM_011539981.1:c.373A>G XP_011538283.1:p.Lys125Glu
XM_011539982.1:c.277A>G XP_011538284.1:p.Lys93Glu
XR_945789.1:n.1085A>G
XR_945790.1:n.1085A>G
XR_945791.1:n.1085A>G