Canonical Allele Identifier: CA1926182784
Community Standard Title: NM_000314.8(PTEN):c.540C= (p.Tyr180=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952165C= , CM000672.2:g.87952165C= GRCh38
NC_000010.10:g.89711922C= , CM000672.1:g.89711922C= GRCh37
NC_000010.9:g.89701902C= NCBI36
NG_007466.2:g.93727C= , LRG_311:g.93727C=

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.540C= MANE Select NP_000305.3:p.Tyr180=
ENST00000371953.8:c.540C= MANE Select ENSP00000361021.3:p.Tyr180=
NM_000314.5:c.540C= NP_000305.3:p.Tyr180=
NM_000314.6:c.540C= NP_000305.3:p.Tyr180=
NM_000314.7:c.540C= NP_000305.3:p.Tyr180=
NM_001304717.2:c.1059C= NP_001291646.2:p.Tyr353=
NM_001304717.5:c.1059C= NP_001291646.4:p.Tyr353=
NM_001304718.1:c.-52C= NP_001291647.1:n.-52C=
NM_001304718.2:c.-52C= NP_001291647.1:n.-52C=
ENST00000371953.7:c.540C= ENSP00000361021.3:p.Tyr180=
ENST00000472832.3:c.540C= ENSP00000483066.2:p.Tyr180=
ENST00000686459.1:c.*126C= ENSP00000508909.1:n.*126C=
ENST00000688158.1:c.*651C= ENSP00000509254.1:n.*651C=
ENST00000688158.2:n.1275C=
ENST00000688308.1:c.540C= ENSP00000508752.1:p.Tyr180=
ENST00000688922.1:c.461C=
ENST00000688922.2:c.*370C= ENSP00000508742.2:n.*370C=
ENST00000693560.1:c.1059C= ENSP00000509861.1:p.Tyr353=
ENST00000700021.1:c.495C= ENSP00000514757.1:p.Tyr165=
ENST00000700022.1:c.493-5688C= ENSP00000514758.1:n.493-5688C=
ENST00000700023.1:n.1698C=
ENST00000700024.1:n.1932C=
ENST00000700025.1:n.1309C=
ENST00000700029.1:c.374C=
ENST00000700029.2:c.540C= ENSP00000514759.2:p.Tyr180=
ENST00000706954.1:c.540C= ENSP00000516674.1:p.Tyr180=
ENST00000706955.1:c.*575C= ENSP00000516675.1:n.*575C=
ENST00000710265.1:c.540C= ENSP00000518161.1:p.Tyr180=
XM_006717926.2:c.495C= XP_006717989.1:p.Tyr165=
XM_011539981.1:c.540C= XP_011538283.1:p.Tyr180=
XM_011539982.1:c.444C= XP_011538284.1:p.Tyr148=
XR_945789.1:n.1411C=
XR_945790.1:n.1528C=
XR_945791.1:n.1205-5688C=