Canonical Allele Identifier: CA377482280

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933127A>C , CM000672.2:g.87933127A>C	GRCh38
NC_000010.10:g.89692884A>C , CM000672.1:g.89692884A>C	GRCh37
NC_000010.9:g.89682864A>C	NCBI36
NG_007466.2:g.74689A>C , LRG_311:g.74689A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.368A>C	ENSP00000514759.2:p.His123Pro
ENST00000710265.1:c.368A>C	ENSP00000518161.1:p.His123Pro
ENST00000472832.3:c.368A>C	ENSP00000483066.2:p.His123Pro
ENST00000688158.2:n.1103A>C
ENST00000688922.2:c.*198A>C	ENSP00000508742.2:n.*198A>C
ENST00000700021.1:c.323A>C	ENSP00000514757.1:p.His108Pro
ENST00000700022.1:c.368A>C	ENSP00000514758.1:p.His123Pro
ENST00000700029.1:c.202A>C
ENST00000706954.1:c.368A>C	ENSP00000516674.1:p.His123Pro
ENST00000706955.1:c.*403A>C	ENSP00000516675.1:n.*403A>C
ENST00000686459.1:c.368A>C	ENSP00000508909.1:p.His123Pro
ENST00000688158.1:c.*479A>C	ENSP00000509254.1:n.*479A>C
ENST00000688308.1:c.368A>C	ENSP00000508752.1:p.His123Pro
ENST00000688922.1:c.289A>C
ENST00000693560.1:c.887A>C	ENSP00000509861.1:p.His296Pro
ENST00000371953.8:c.368A>C MANE Select	ENSP00000361021.3:p.His123Pro
ENST00000371953.7:c.368A>C	ENSP00000361021.3:p.His123Pro
ENST00000498703.1:n.194A>C
ENST00000610634.1:c.266A>C	ENSP00000477517.1:p.His89Pro
NM_000314.5:c.368A>C	NP_000305.3:p.His123Pro
NM_000314.6:c.368A>C	NP_000305.3:p.His123Pro
NM_001304717.2:c.887A>C	NP_001291646.2:p.His296Pro
NM_001304718.1:c.-383A>C	NP_001291647.1:n.-383A>C
XM_006717926.2:c.323A>C	XP_006717989.1:p.His108Pro
XM_011539981.1:c.368A>C	XP_011538283.1:p.His123Pro
XM_011539982.1:c.272A>C	XP_011538284.1:p.His91Pro
XR_945789.1:n.1080A>C
XR_945790.1:n.1080A>C
XR_945791.1:n.1080A>C
NM_000314.7:c.368A>C	NP_000305.3:p.His123Pro
NM_001304717.5:c.887A>C	NP_001291646.4:p.His296Pro
NM_001304718.2:c.-383A>C	NP_001291647.1:n.-383A>C
NM_000314.8:c.368A>C MANE Select	NP_000305.3:p.His123Pro