Canonical Allele Identifier: CA377484225
Community Standard Title: NM_000314.8(PTEN):c.494G>A (p.Gly165Glu)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952119G>A , CM000672.2:g.87952119G>A GRCh38
NC_000010.10:g.89711876G>A , CM000672.1:g.89711876G>A GRCh37
NC_000010.9:g.89701856G>A NCBI36
NG_007466.2:g.93681G>A , LRG_311:g.93681G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.494G>A MANE Select NP_000305.3:p.Gly165Glu
ENST00000371953.8:c.494G>A MANE Select ENSP00000361021.3:p.Gly165Glu
NM_000314.5:c.494G>A NP_000305.3:p.Gly165Glu
NM_000314.6:c.494G>A NP_000305.3:p.Gly165Glu
NM_000314.7:c.494G>A NP_000305.3:p.Gly165Glu
NM_001304717.2:c.1013G>A NP_001291646.2:p.Gly338Glu
NM_001304717.5:c.1013G>A NP_001291646.4:p.Gly338Glu
NM_001304718.1:c.-98G>A NP_001291647.1:n.-98G>A
NM_001304718.2:c.-98G>A NP_001291647.1:n.-98G>A
ENST00000371953.7:c.494G>A ENSP00000361021.3:p.Gly165Glu
ENST00000472832.3:c.494G>A ENSP00000483066.2:p.Gly165Glu
ENST00000686459.1:c.*80G>A ENSP00000508909.1:n.*80G>A
ENST00000688158.1:c.*605G>A ENSP00000509254.1:n.*605G>A
ENST00000688158.2:n.1229G>A
ENST00000688308.1:c.494G>A ENSP00000508752.1:p.Gly165Glu
ENST00000688922.1:c.415G>A
ENST00000688922.2:c.*324G>A ENSP00000508742.2:n.*324G>A
ENST00000693560.1:c.1013G>A ENSP00000509861.1:p.Gly338Glu
ENST00000700021.1:c.449G>A ENSP00000514757.1:p.Gly150Glu
ENST00000700022.1:c.493-5734G>A ENSP00000514758.1:n.493-5734G>A
ENST00000700023.1:n.1652G>A
ENST00000700024.1:n.1886G>A
ENST00000700025.1:n.1263G>A
ENST00000700029.1:c.328G>A
ENST00000700029.2:c.494G>A ENSP00000514759.2:p.Gly165Glu
ENST00000706954.1:c.494G>A ENSP00000516674.1:p.Gly165Glu
ENST00000706955.1:c.*529G>A ENSP00000516675.1:n.*529G>A
ENST00000710265.1:c.494G>A ENSP00000518161.1:p.Gly165Glu
XM_006717926.2:c.449G>A XP_006717989.1:p.Gly150Glu
XM_011539981.1:c.494G>A XP_011538283.1:p.Gly165Glu
XM_011539982.1:c.398G>A XP_011538284.1:p.Gly133Glu
XR_945789.1:n.1365G>A
XR_945790.1:n.1482G>A
XR_945791.1:n.1205-5734G>A