Canonical Allele Identifier: CA000191
Community Standard Title: NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957938C>T , CM000672.2:g.87957938C>T GRCh38
NC_000010.10:g.89717695C>T , CM000672.1:g.89717695C>T GRCh37
NC_000010.9:g.89707675C>T NCBI36
NG_007466.2:g.99500C>T , LRG_311:g.99500C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.720C>T MANE Select NP_000305.3:p.Tyr240=
ENST00000371953.8:c.720C>T MANE Select ENSP00000361021.3:p.Tyr240=
NM_000314.5:c.720C>T NP_000305.3:p.Tyr240=
NM_000314.6:c.720C>T NP_000305.3:p.Tyr240=
NM_000314.7:c.720C>T NP_000305.3:p.Tyr240=
NM_001304717.2:c.1239C>T NP_001291646.2:p.Tyr413=
NM_001304717.5:c.1239C>T NP_001291646.4:p.Tyr413=
NM_001304718.1:c.129C>T NP_001291647.1:p.Tyr43=
NM_001304718.2:c.129C>T NP_001291647.1:p.Tyr43=
ENST00000371953.7:c.720C>T ENSP00000361021.3:p.Tyr240=
ENST00000472832.2:c.147C>T ENSP00000483066.1:p.Tyr49=
ENST00000472832.3:c.720C>T ENSP00000483066.2:p.Tyr240=
ENST00000686459.1:c.*306C>T ENSP00000508909.1:n.*306C>T
ENST00000688158.1:c.*831C>T ENSP00000509254.1:n.*831C>T
ENST00000688158.2:n.1455C>T
ENST00000688308.1:c.720C>T ENSP00000508752.1:p.Tyr240=
ENST00000688922.1:c.641C>T
ENST00000688922.2:c.*550C>T ENSP00000508742.2:n.*550C>T
ENST00000693560.1:c.1239C>T ENSP00000509861.1:p.Tyr413=
ENST00000700021.1:c.675C>T ENSP00000514757.1:p.Tyr225=
ENST00000700022.1:c.*59C>T ENSP00000514758.1:n.*59C>T
ENST00000700023.1:n.1878C>T
ENST00000700024.1:n.2112C>T
ENST00000700025.1:n.1489C>T
ENST00000700026.1:n.357C>T
ENST00000700029.1:c.554C>T
ENST00000700029.2:c.720C>T ENSP00000514759.2:p.Tyr240=
ENST00000706954.1:c.720C>T ENSP00000516674.1:p.Tyr240=
ENST00000706955.1:c.*755C>T ENSP00000516675.1:n.*755C>T
ENST00000710265.1:c.720C>T ENSP00000518161.1:p.Tyr240=
XM_006717926.2:c.675C>T XP_006717989.1:p.Tyr225=
XM_011539981.1:c.720C>T XP_011538283.1:p.Tyr240=
XM_011539982.1:c.624C>T XP_011538284.1:p.Tyr208=
XR_945791.1:n.1290C>T