Canonical Allele Identifier: CA377486089

Gene: PTEN

Linked Data

• MyVariant Identifiers: chr10:g.89720837A>C (hg19) ; chr10:g.87961080A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961080A>C , CM000672.2:g.87961080A>C	GRCh38
NC_000010.10:g.89720837A>C , CM000672.1:g.89720837A>C	GRCh37
NC_000010.9:g.89710817A>C	NCBI36
NG_007466.2:g.102642A>C , LRG_311:g.102642A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1081A>C	ENSP00000514759.2:p.Lys361Gln
ENST00000710265.1:c.988A>C	ENSP00000518161.1:p.Lys330Gln
ENST00000472832.3:c.988A>C	ENSP00000483066.2:p.Lys330Gln
ENST00000688158.2:n.1723A>C
ENST00000688922.2:c.*818A>C	ENSP00000508742.2:n.*818A>C
ENST00000700021.1:c.943A>C	ENSP00000514757.1:p.Lys315Gln
ENST00000700022.1:c.*327A>C	ENSP00000514758.1:n.*327A>C
ENST00000700023.1:n.2146A>C
ENST00000700024.1:n.2380A>C
ENST00000700025.1:n.1757A>C
ENST00000700026.1:n.625A>C
ENST00000706954.1:c.988A>C	ENSP00000516674.1:p.Lys330Gln
ENST00000706955.1:c.*1023A>C	ENSP00000516675.1:n.*1023A>C
ENST00000686459.1:c.*574A>C	ENSP00000508909.1:n.*574A>C
ENST00000688158.1:c.*1099A>C	ENSP00000509254.1:n.*1099A>C
ENST00000688308.1:c.988A>C	ENSP00000508752.1:p.Lys330Gln
ENST00000688922.1:c.909A>C
ENST00000693560.1:c.1507A>C	ENSP00000509861.1:p.Lys503Gln
ENST00000371953.8:c.988A>C MANE Select	ENSP00000361021.3:p.Lys330Gln
ENST00000371953.7:c.988A>C	ENSP00000361021.3:p.Lys330Gln
ENST00000472832.2:c.415A>C	ENSP00000483066.1:p.Lys139Gln
NM_000314.5:c.988A>C	NP_000305.3:p.Lys330Gln
NM_000314.6:c.988A>C	NP_000305.3:p.Lys330Gln
NM_001304717.2:c.1507A>C	NP_001291646.2:p.Lys503Gln
NM_001304718.1:c.397A>C	NP_001291647.1:p.Lys133Gln
XM_006717926.2:c.943A>C	XP_006717989.1:p.Lys315Gln
XM_011539981.1:c.988A>C	XP_011538283.1:p.Lys330Gln
XM_011539982.1:c.892A>C	XP_011538284.1:p.Lys298Gln
XR_945791.1:n.1558A>C
NM_000314.7:c.988A>C	NP_000305.3:p.Lys330Gln
NM_001304717.5:c.1507A>C	NP_001291646.4:p.Lys503Gln
NM_001304718.2:c.397A>C	NP_001291647.1:p.Lys133Gln
NM_000314.8:c.988A>C MANE Select	NP_000305.3:p.Lys330Gln