Canonical Allele Identifier: CA377484929

Gene: PTEN

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.720C>A MANE Select	NP_000305.3:p.Tyr240Ter
ENST00000371953.8:c.720C>A MANE Select	ENSP00000361021.3:p.Tyr240Ter
NM_000314.5:c.720C>A	NP_000305.3:p.Tyr240Ter
NM_000314.6:c.720C>A	NP_000305.3:p.Tyr240Ter
NM_000314.7:c.720C>A	NP_000305.3:p.Tyr240Ter
NM_001304717.2:c.1239C>A	NP_001291646.2:p.Tyr413Ter
NM_001304717.5:c.1239C>A	NP_001291646.4:p.Tyr413Ter
NM_001304718.1:c.129C>A	NP_001291647.1:p.Tyr43Ter
NM_001304718.2:c.129C>A	NP_001291647.1:p.Tyr43Ter
ENST00000371953.7:c.720C>A	ENSP00000361021.3:p.Tyr240Ter
ENST00000472832.2:c.147C>A	ENSP00000483066.1:p.Tyr49Ter
ENST00000472832.3:c.720C>A	ENSP00000483066.2:p.Tyr240Ter
ENST00000686459.1:c.*306C>A	ENSP00000508909.1:n.*306C>A
ENST00000688158.1:c.*831C>A	ENSP00000509254.1:n.*831C>A
ENST00000688158.2:n.1455C>A
ENST00000688308.1:c.720C>A	ENSP00000508752.1:p.Tyr240Ter
ENST00000688922.1:c.641C>A
ENST00000688922.2:c.*550C>A	ENSP00000508742.2:n.*550C>A
ENST00000693560.1:c.1239C>A	ENSP00000509861.1:p.Tyr413Ter
ENST00000700021.1:c.675C>A	ENSP00000514757.1:p.Tyr225Ter
ENST00000700022.1:c.*59C>A	ENSP00000514758.1:n.*59C>A
ENST00000700023.1:n.1878C>A
ENST00000700024.1:n.2112C>A
ENST00000700025.1:n.1489C>A
ENST00000700026.1:n.357C>A
ENST00000700029.1:c.554C>A
ENST00000700029.2:c.720C>A	ENSP00000514759.2:p.Tyr240Ter
ENST00000706954.1:c.720C>A	ENSP00000516674.1:p.Tyr240Ter
ENST00000706955.1:c.*755C>A	ENSP00000516675.1:n.*755C>A
ENST00000710265.1:c.720C>A	ENSP00000518161.1:p.Tyr240Ter
XM_006717926.2:c.675C>A	XP_006717989.1:p.Tyr225Ter
XM_011539981.1:c.720C>A	XP_011538283.1:p.Tyr240Ter
XM_011539982.1:c.624C>A	XP_011538284.1:p.Tyr208Ter
XR_945791.1:n.1290C>A