Canonical Allele Identifier: CA000145

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933108A>C , CM000672.2:g.87933108A>C	GRCh38
NC_000010.10:g.89692865A>C , CM000672.1:g.89692865A>C	GRCh37
NC_000010.9:g.89682845A>C	NCBI36
NG_007466.2:g.74670A>C , LRG_311:g.74670A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.349A>C MANE Select	NP_000305.3:p.Asn117His
ENST00000371953.8:c.349A>C MANE Select	ENSP00000361021.3:p.Asn117His
NM_000314.5:c.349A>C	NP_000305.3:p.Asn117His
NM_000314.6:c.349A>C	NP_000305.3:p.Asn117His
NM_000314.7:c.349A>C	NP_000305.3:p.Asn117His
NM_001304717.2:c.868A>C	NP_001291646.2:p.Asn290His
NM_001304717.5:c.868A>C	NP_001291646.4:p.Asn290His
NM_001304718.1:c.-402A>C	NP_001291647.1:n.-402A>C
NM_001304718.2:c.-402A>C	NP_001291647.1:n.-402A>C
ENST00000371953.7:c.349A>C	ENSP00000361021.3:p.Asn117His
ENST00000472832.3:c.349A>C	ENSP00000483066.2:p.Asn117His
ENST00000498703.1:n.175A>C
ENST00000610634.1:c.247A>C	ENSP00000477517.1:p.Asn83His
ENST00000686459.1:c.349A>C	ENSP00000508909.1:p.Asn117His
ENST00000688158.1:c.*460A>C	ENSP00000509254.1:n.*460A>C
ENST00000688158.2:n.1084A>C
ENST00000688308.1:c.349A>C	ENSP00000508752.1:p.Asn117His
ENST00000688922.1:c.270A>C
ENST00000688922.2:c.*179A>C	ENSP00000508742.2:n.*179A>C
ENST00000693560.1:c.868A>C	ENSP00000509861.1:p.Asn290His
ENST00000700021.1:c.304A>C	ENSP00000514757.1:p.Asn102His
ENST00000700022.1:c.349A>C	ENSP00000514758.1:p.Asn117His
ENST00000700029.1:c.183A>C
ENST00000700029.2:c.349A>C	ENSP00000514759.2:p.Asn117His
ENST00000706954.1:c.349A>C	ENSP00000516674.1:p.Asn117His
ENST00000706955.1:c.*384A>C	ENSP00000516675.1:n.*384A>C
ENST00000710265.1:c.349A>C	ENSP00000518161.1:p.Asn117His
XM_006717926.2:c.304A>C	XP_006717989.1:p.Asn102His
XM_011539981.1:c.349A>C	XP_011538283.1:p.Asn117His
XM_011539982.1:c.253A>C	XP_011538284.1:p.Asn85His
XR_945789.1:n.1061A>C
XR_945790.1:n.1061A>C
XR_945791.1:n.1061A>C