Canonical Allele Identifier: CA377486135

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961100C>A , CM000672.2:g.87961100C>A	GRCh38
NC_000010.10:g.89720857C>A , CM000672.1:g.89720857C>A	GRCh37
NC_000010.9:g.89710837C>A	NCBI36
NG_007466.2:g.102662C>A , LRG_311:g.102662C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.1008C>A MANE Select	NP_000305.3:p.Tyr336Ter
ENST00000371953.8:c.1008C>A MANE Select	ENSP00000361021.3:p.Tyr336Ter
NM_000314.5:c.1008C>A	NP_000305.3:p.Tyr336Ter
NM_000314.6:c.1008C>A	NP_000305.3:p.Tyr336Ter
NM_000314.7:c.1008C>A	NP_000305.3:p.Tyr336Ter
NM_001304717.2:c.1527C>A	NP_001291646.2:p.Tyr509Ter
NM_001304717.5:c.1527C>A	NP_001291646.4:p.Tyr509Ter
NM_001304718.1:c.417C>A	NP_001291647.1:p.Tyr139Ter
NM_001304718.2:c.417C>A	NP_001291647.1:p.Tyr139Ter
ENST00000371953.7:c.1008C>A	ENSP00000361021.3:p.Tyr336Ter
ENST00000472832.2:c.435C>A	ENSP00000483066.1:p.Tyr145Ter
ENST00000472832.3:c.1008C>A	ENSP00000483066.2:p.Tyr336Ter
ENST00000686459.1:c.*594C>A	ENSP00000508909.1:n.*594C>A
ENST00000688158.1:c.*1119C>A	ENSP00000509254.1:n.*1119C>A
ENST00000688158.2:n.1743C>A
ENST00000688308.1:c.1008C>A	ENSP00000508752.1:p.Tyr336Ter
ENST00000688922.1:c.929C>A
ENST00000688922.2:c.*838C>A	ENSP00000508742.2:n.*838C>A
ENST00000693560.1:c.1527C>A	ENSP00000509861.1:p.Tyr509Ter
ENST00000700021.1:c.963C>A	ENSP00000514757.1:p.Tyr321Ter
ENST00000700022.1:c.*347C>A	ENSP00000514758.1:n.*347C>A
ENST00000700023.1:n.2166C>A
ENST00000700024.1:n.2400C>A
ENST00000700025.1:n.1777C>A
ENST00000700026.1:n.645C>A
ENST00000700029.2:c.1101C>A	ENSP00000514759.2:p.Tyr367Ter
ENST00000706954.1:c.1008C>A	ENSP00000516674.1:p.Tyr336Ter
ENST00000706955.1:c.*1043C>A	ENSP00000516675.1:n.*1043C>A
ENST00000710265.1:c.1008C>A	ENSP00000518161.1:p.Tyr336Ter
XM_006717926.2:c.963C>A	XP_006717989.1:p.Tyr321Ter
XM_011539981.1:c.1008C>A	XP_011538283.1:p.Tyr336Ter
XM_011539982.1:c.912C>A	XP_011538284.1:p.Tyr304Ter
XR_945791.1:n.1578C>A