Canonical Allele Identifier: CA16612914
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 404172
ClinVar RCV Id: RCV000463600
dbSNP Id: rs370064195

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960981G>C , CM000672.2:g.87960981G>C GRCh38
NC_000010.10:g.89720738G>C , CM000672.1:g.89720738G>C GRCh37
NC_000010.9:g.89710718G>C NCBI36
NG_007466.2:g.102543G>C , LRG_311:g.102543G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.982G>C ENSP00000514759.2:p.Asp328His
ENST00000710265.1:c.889G>C ENSP00000518161.1:p.Asp297His
ENST00000472832.3:c.889G>C ENSP00000483066.2:p.Asp297His
ENST00000688158.2:n.1624G>C
ENST00000688922.2:c.*719G>C ENSP00000508742.2:n.*719G>C
ENST00000700021.1:c.844G>C ENSP00000514757.1:p.Asp282His
ENST00000700022.1:c.*228G>C ENSP00000514758.1:n.*228G>C
ENST00000700023.1:n.2047G>C
ENST00000700024.1:n.2281G>C
ENST00000700025.1:n.1658G>C
ENST00000700026.1:n.526G>C
ENST00000706954.1:c.889G>C ENSP00000516674.1:p.Asp297His
ENST00000706955.1:c.*924G>C ENSP00000516675.1:n.*924G>C
ENST00000686459.1:c.*475G>C ENSP00000508909.1:n.*475G>C
ENST00000688158.1:c.*1000G>C ENSP00000509254.1:n.*1000G>C
ENST00000688308.1:c.889G>C ENSP00000508752.1:p.Asp297His
ENST00000688922.1:c.810G>C
ENST00000693560.1:c.1408G>C ENSP00000509861.1:p.Asp470His
ENST00000371953.8:c.889G>C MANE Select ENSP00000361021.3:p.Asp297His
ENST00000371953.7:c.889G>C ENSP00000361021.3:p.Asp297His
ENST00000472832.2:c.316G>C ENSP00000483066.1:p.Asp106His
NM_000314.5:c.889G>C NP_000305.3:p.Asp297His
NM_000314.6:c.889G>C NP_000305.3:p.Asp297His
NM_001304717.2:c.1408G>C NP_001291646.2:p.Asp470His
NM_001304718.1:c.298G>C NP_001291647.1:p.Asp100His
XM_006717926.2:c.844G>C XP_006717989.1:p.Asp282His
XM_011539981.1:c.889G>C XP_011538283.1:p.Asp297His
XM_011539982.1:c.793G>C XP_011538284.1:p.Asp265His
XR_945791.1:n.1459G>C
NM_000314.7:c.889G>C NP_000305.3:p.Asp297His
NM_001304717.5:c.1408G>C NP_001291646.4:p.Asp470His
NM_001304718.2:c.298G>C NP_001291647.1:p.Asp100His
NM_000314.8:c.889G>C MANE Select NP_000305.3:p.Asp297His