Canonical Allele Identifier: CA377482288

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933131T>G , CM000672.2:g.87933131T>G	GRCh38
NC_000010.10:g.89692888T>G , CM000672.1:g.89692888T>G	GRCh37
NC_000010.9:g.89682868T>G	NCBI36
NG_007466.2:g.74693T>G , LRG_311:g.74693T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.372T>G MANE Select	NP_000305.3:p.Cys124Trp
ENST00000371953.8:c.372T>G MANE Select	ENSP00000361021.3:p.Cys124Trp
NM_000314.5:c.372T>G	NP_000305.3:p.Cys124Trp
NM_000314.6:c.372T>G	NP_000305.3:p.Cys124Trp
NM_000314.7:c.372T>G	NP_000305.3:p.Cys124Trp
NM_001304717.2:c.891T>G	NP_001291646.2:p.Cys297Trp
NM_001304717.5:c.891T>G	NP_001291646.4:p.Cys297Trp
NM_001304718.1:c.-379T>G	NP_001291647.1:n.-379T>G
NM_001304718.2:c.-379T>G	NP_001291647.1:n.-379T>G
ENST00000371953.7:c.372T>G	ENSP00000361021.3:p.Cys124Trp
ENST00000472832.3:c.372T>G	ENSP00000483066.2:p.Cys124Trp
ENST00000498703.1:n.198T>G
ENST00000610634.1:c.270T>G	ENSP00000477517.1:p.Cys90Trp
ENST00000686459.1:c.372T>G	ENSP00000508909.1:p.Cys124Trp
ENST00000688158.1:c.*483T>G	ENSP00000509254.1:n.*483T>G
ENST00000688158.2:n.1107T>G
ENST00000688308.1:c.372T>G	ENSP00000508752.1:p.Cys124Trp
ENST00000688922.1:c.293T>G
ENST00000688922.2:c.*202T>G	ENSP00000508742.2:n.*202T>G
ENST00000693560.1:c.891T>G	ENSP00000509861.1:p.Cys297Trp
ENST00000700021.1:c.327T>G	ENSP00000514757.1:p.Cys109Trp
ENST00000700022.1:c.372T>G	ENSP00000514758.1:p.Cys124Trp
ENST00000700029.1:c.206T>G
ENST00000700029.2:c.372T>G	ENSP00000514759.2:p.Cys124Trp
ENST00000706954.1:c.372T>G	ENSP00000516674.1:p.Cys124Trp
ENST00000706955.1:c.*407T>G	ENSP00000516675.1:n.*407T>G
ENST00000710265.1:c.372T>G	ENSP00000518161.1:p.Cys124Trp
XM_006717926.2:c.327T>G	XP_006717989.1:p.Cys109Trp
XM_011539981.1:c.372T>G	XP_011538283.1:p.Cys124Trp
XM_011539982.1:c.276T>G	XP_011538284.1:p.Cys92Trp
XR_945789.1:n.1084T>G
XR_945790.1:n.1084T>G
XR_945791.1:n.1084T>G