Canonical Allele Identifier: CA377485614

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1440481
• ClinVar RCV Id: RCV001936894 ; RCV002442916
• dbSNP Id: rs751888926
• MyVariant Identifiers: chr10:g.89720704A>T (hg19) ; chr10:g.87960947A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960947A>T , CM000672.2:g.87960947A>T	GRCh38
NC_000010.10:g.89720704A>T , CM000672.1:g.89720704A>T	GRCh37
NC_000010.9:g.89710684A>T	NCBI36
NG_007466.2:g.102509A>T , LRG_311:g.102509A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.948A>T	ENSP00000514759.2:p.Glu316Asp
ENST00000710265.1:c.855A>T	ENSP00000518161.1:p.Glu285Asp
ENST00000472832.3:c.855A>T	ENSP00000483066.2:p.Glu285Asp
ENST00000688158.2:n.1590A>T
ENST00000688922.2:c.*685A>T	ENSP00000508742.2:n.*685A>T
ENST00000700021.1:c.810A>T	ENSP00000514757.1:p.Glu270Asp
ENST00000700022.1:c.*194A>T	ENSP00000514758.1:n.*194A>T
ENST00000700023.1:n.2013A>T
ENST00000700024.1:n.2247A>T
ENST00000700025.1:n.1624A>T
ENST00000700026.1:n.492A>T
ENST00000700029.1:c.782A>T
ENST00000706954.1:c.855A>T	ENSP00000516674.1:p.Glu285Asp
ENST00000706955.1:c.*890A>T	ENSP00000516675.1:n.*890A>T
ENST00000686459.1:c.*441A>T	ENSP00000508909.1:n.*441A>T
ENST00000688158.1:c.*966A>T	ENSP00000509254.1:n.*966A>T
ENST00000688308.1:c.855A>T	ENSP00000508752.1:p.Glu285Asp
ENST00000688922.1:c.776A>T
ENST00000693560.1:c.1374A>T	ENSP00000509861.1:p.Glu458Asp
ENST00000371953.8:c.855A>T MANE Select	ENSP00000361021.3:p.Glu285Asp
ENST00000371953.7:c.855A>T	ENSP00000361021.3:p.Glu285Asp
ENST00000472832.2:c.282A>T	ENSP00000483066.1:p.Glu94Asp
NM_000314.5:c.855A>T	NP_000305.3:p.Glu285Asp
NM_000314.6:c.855A>T	NP_000305.3:p.Glu285Asp
NM_001304717.2:c.1374A>T	NP_001291646.2:p.Glu458Asp
NM_001304718.1:c.264A>T	NP_001291647.1:p.Glu88Asp
XM_006717926.2:c.810A>T	XP_006717989.1:p.Glu270Asp
XM_011539981.1:c.855A>T	XP_011538283.1:p.Glu285Asp
XM_011539982.1:c.759A>T	XP_011538284.1:p.Glu253Asp
XR_945791.1:n.1425A>T
NM_000314.7:c.855A>T	NP_000305.3:p.Glu285Asp
NM_001304717.5:c.1374A>T	NP_001291646.4:p.Glu458Asp
NM_001304718.2:c.264A>T	NP_001291647.1:p.Glu88Asp
NM_000314.8:c.855A>T MANE Select	NP_000305.3:p.Glu285Asp