Canonical Allele Identifier: CA377485978
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2746803
ClinVar RCV Id: RCV003509346
dbSNP Id: rs2132283096

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961045T>C , CM000672.2:g.87961045T>C GRCh38
NC_000010.10:g.89720802T>C , CM000672.1:g.89720802T>C GRCh37
NC_000010.9:g.89710782T>C NCBI36
NG_007466.2:g.102607T>C , LRG_311:g.102607T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1046T>C ENSP00000514759.2:p.Leu349Pro
ENST00000710265.1:c.953T>C ENSP00000518161.1:p.Leu318Pro
ENST00000472832.3:c.953T>C ENSP00000483066.2:p.Leu318Pro
ENST00000688158.2:n.1688T>C
ENST00000688922.2:c.*783T>C ENSP00000508742.2:n.*783T>C
ENST00000700021.1:c.908T>C ENSP00000514757.1:p.Leu303Pro
ENST00000700022.1:c.*292T>C ENSP00000514758.1:n.*292T>C
ENST00000700023.1:n.2111T>C
ENST00000700024.1:n.2345T>C
ENST00000700025.1:n.1722T>C
ENST00000700026.1:n.590T>C
ENST00000706954.1:c.953T>C ENSP00000516674.1:p.Leu318Pro
ENST00000706955.1:c.*988T>C ENSP00000516675.1:n.*988T>C
ENST00000686459.1:c.*539T>C ENSP00000508909.1:n.*539T>C
ENST00000688158.1:c.*1064T>C ENSP00000509254.1:n.*1064T>C
ENST00000688308.1:c.953T>C ENSP00000508752.1:p.Leu318Pro
ENST00000688922.1:c.874T>C
ENST00000693560.1:c.1472T>C ENSP00000509861.1:p.Leu491Pro
ENST00000371953.8:c.953T>C MANE Select ENSP00000361021.3:p.Leu318Pro
ENST00000371953.7:c.953T>C ENSP00000361021.3:p.Leu318Pro
ENST00000472832.2:c.380T>C ENSP00000483066.1:p.Leu127Pro
NM_000314.5:c.953T>C NP_000305.3:p.Leu318Pro
NM_000314.6:c.953T>C NP_000305.3:p.Leu318Pro
NM_001304717.2:c.1472T>C NP_001291646.2:p.Leu491Pro
NM_001304718.1:c.362T>C NP_001291647.1:p.Leu121Pro
XM_006717926.2:c.908T>C XP_006717989.1:p.Leu303Pro
XM_011539981.1:c.953T>C XP_011538283.1:p.Leu318Pro
XM_011539982.1:c.857T>C XP_011538284.1:p.Leu286Pro
XR_945791.1:n.1523T>C
NM_000314.7:c.953T>C NP_000305.3:p.Leu318Pro
NM_001304717.5:c.1472T>C NP_001291646.4:p.Leu491Pro
NM_001304718.2:c.362T>C NP_001291647.1:p.Leu121Pro
NM_000314.8:c.953T>C MANE Select NP_000305.3:p.Leu318Pro