Canonical Allele Identifier: CA1926175870
Community Standard Title: NM_000314.8(PTEN):c.445C= (p.Gln149=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933204C= , CM000672.2:g.87933204C= GRCh38
NC_000010.10:g.89692961C= , CM000672.1:g.89692961C= GRCh37
NC_000010.9:g.89682941C= NCBI36
NG_007466.2:g.74766C= , LRG_311:g.74766C=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.445C= MANE Select NP_000305.3:p.Gln149=
ENST00000371953.8:c.445C= MANE Select ENSP00000361021.3:p.Gln149=
NM_000314.5:c.445C= NP_000305.3:p.Gln149=
NM_000314.6:c.445C= NP_000305.3:p.Gln149=
NM_000314.7:c.445C= NP_000305.3:p.Gln149=
NM_001304717.2:c.964C= NP_001291646.2:p.Gln322=
NM_001304717.5:c.964C= NP_001291646.4:p.Gln322=
NM_001304718.1:c.-306C= NP_001291647.1:n.-306C=
NM_001304718.2:c.-306C= NP_001291647.1:n.-306C=
ENST00000371953.7:c.445C= ENSP00000361021.3:p.Gln149=
ENST00000472832.3:c.445C= ENSP00000483066.2:p.Gln149=
ENST00000498703.1:n.271C=
ENST00000610634.1:c.343C= ENSP00000477517.1:p.Gln115=
ENST00000686459.1:c.445C= ENSP00000508909.1:p.Gln149=
ENST00000688158.1:c.*556C= ENSP00000509254.1:n.*556C=
ENST00000688158.2:n.1180C=
ENST00000688308.1:c.445C= ENSP00000508752.1:p.Gln149=
ENST00000688922.1:c.366C=
ENST00000688922.2:c.*275C= ENSP00000508742.2:n.*275C=
ENST00000693560.1:c.964C= ENSP00000509861.1:p.Gln322=
ENST00000700021.1:c.400C= ENSP00000514757.1:p.Gln134=
ENST00000700022.1:c.445C= ENSP00000514758.1:p.Gln149=
ENST00000700029.1:c.279C=
ENST00000700029.2:c.445C= ENSP00000514759.2:p.Gln149=
ENST00000706954.1:c.445C= ENSP00000516674.1:p.Gln149=
ENST00000706955.1:c.*480C= ENSP00000516675.1:n.*480C=
ENST00000710265.1:c.445C= ENSP00000518161.1:p.Gln149=
XM_006717926.2:c.400C= XP_006717989.1:p.Gln134=
XM_011539981.1:c.445C= XP_011538283.1:p.Gln149=
XM_011539982.1:c.349C= XP_011538284.1:p.Gln117=
XR_945789.1:n.1157C=
XR_945790.1:n.1157C=
XR_945791.1:n.1157C=