Canonical Allele Identifier: CA1926175416
Community Standard Title: NM_000314.8(PTEN):c.401T= (p.Met134=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933160T= , CM000672.2:g.87933160T= GRCh38
NC_000010.10:g.89692917T= , CM000672.1:g.89692917T= GRCh37
NC_000010.9:g.89682897T= NCBI36
NG_007466.2:g.74722T= , LRG_311:g.74722T=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.401T= MANE Select NP_000305.3:p.Met134=
ENST00000371953.8:c.401T= MANE Select ENSP00000361021.3:p.Met134=
NM_000314.5:c.401T= NP_000305.3:p.Met134=
NM_000314.6:c.401T= NP_000305.3:p.Met134=
NM_000314.7:c.401T= NP_000305.3:p.Met134=
NM_001304717.2:c.920T= NP_001291646.2:p.Met307=
NM_001304717.5:c.920T= NP_001291646.4:p.Met307=
NM_001304718.1:c.-350T= NP_001291647.1:n.-350T=
NM_001304718.2:c.-350T= NP_001291647.1:n.-350T=
ENST00000371953.7:c.401T= ENSP00000361021.3:p.Met134=
ENST00000472832.3:c.401T= ENSP00000483066.2:p.Met134=
ENST00000498703.1:n.227T=
ENST00000610634.1:c.299T= ENSP00000477517.1:p.Met100=
ENST00000686459.1:c.401T= ENSP00000508909.1:p.Met134=
ENST00000688158.1:c.*512T= ENSP00000509254.1:n.*512T=
ENST00000688158.2:n.1136T=
ENST00000688308.1:c.401T= ENSP00000508752.1:p.Met134=
ENST00000688922.1:c.322T=
ENST00000688922.2:c.*231T= ENSP00000508742.2:n.*231T=
ENST00000693560.1:c.920T= ENSP00000509861.1:p.Met307=
ENST00000700021.1:c.356T= ENSP00000514757.1:p.Met119=
ENST00000700022.1:c.401T= ENSP00000514758.1:p.Met134=
ENST00000700029.1:c.235T=
ENST00000700029.2:c.401T= ENSP00000514759.2:p.Met134=
ENST00000706954.1:c.401T= ENSP00000516674.1:p.Met134=
ENST00000706955.1:c.*436T= ENSP00000516675.1:n.*436T=
ENST00000710265.1:c.401T= ENSP00000518161.1:p.Met134=
XM_006717926.2:c.356T= XP_006717989.1:p.Met119=
XM_011539981.1:c.401T= XP_011538283.1:p.Met134=
XM_011539982.1:c.305T= XP_011538284.1:p.Met102=
XR_945789.1:n.1113T=
XR_945790.1:n.1113T=
XR_945791.1:n.1113T=