Canonical Allele Identifier: CA10578932
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 232796
dbSNP Id: rs876659993

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961043A>C , CM000672.2:g.87961043A>C GRCh38
NC_000010.10:g.89720800A>C , CM000672.1:g.89720800A>C GRCh37
NC_000010.9:g.89710780A>C NCBI36
NG_007466.2:g.102605A>C , LRG_311:g.102605A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1044A>C ENSP00000514759.2:p.Val348=
ENST00000710265.1:c.951A>C ENSP00000518161.1:p.Val317=
ENST00000472832.3:c.951A>C ENSP00000483066.2:p.Val317=
ENST00000688158.2:n.1686A>C
ENST00000688922.2:c.*781A>C ENSP00000508742.2:n.*781A>C
ENST00000700021.1:c.906A>C ENSP00000514757.1:p.Val302=
ENST00000700022.1:c.*290A>C ENSP00000514758.1:n.*290A>C
ENST00000700023.1:n.2109A>C
ENST00000700024.1:n.2343A>C
ENST00000700025.1:n.1720A>C
ENST00000700026.1:n.588A>C
ENST00000706954.1:c.951A>C ENSP00000516674.1:p.Val317=
ENST00000706955.1:c.*986A>C ENSP00000516675.1:n.*986A>C
ENST00000686459.1:c.*537A>C ENSP00000508909.1:n.*537A>C
ENST00000688158.1:c.*1062A>C ENSP00000509254.1:n.*1062A>C
ENST00000688308.1:c.951A>C ENSP00000508752.1:p.Val317=
ENST00000688922.1:c.872A>C
ENST00000693560.1:c.1470A>C ENSP00000509861.1:p.Val490=
ENST00000371953.8:c.951A>C MANE Select ENSP00000361021.3:p.Val317=
ENST00000371953.7:c.951A>C ENSP00000361021.3:p.Val317=
ENST00000472832.2:c.378A>C ENSP00000483066.1:p.Val126=
NM_000314.5:c.951A>C NP_000305.3:p.Val317=
NM_000314.6:c.951A>C NP_000305.3:p.Val317=
NM_001304717.2:c.1470A>C NP_001291646.2:p.Val490=
NM_001304718.1:c.360A>C NP_001291647.1:p.Val120=
XM_006717926.2:c.906A>C XP_006717989.1:p.Val302=
XM_011539981.1:c.951A>C XP_011538283.1:p.Val317=
XM_011539982.1:c.855A>C XP_011538284.1:p.Val285=
XR_945791.1:n.1521A>C
NM_000314.7:c.951A>C NP_000305.3:p.Val317=
NM_001304717.5:c.1470A>C NP_001291646.4:p.Val490=
NM_001304718.2:c.360A>C NP_001291647.1:p.Val120=
NM_000314.8:c.951A>C MANE Select NP_000305.3:p.Val317=