Canonical Allele Identifier: CA333572
Gene: PIK3CA HGNC NCBI

Linked Data

ClinVar Variation Id: 31944
ClinVar RCV Id: RCV000024622 RCV000151649 RCV000154513 RCV000419905 RCV000420078 RCV000416776 RCV000426691 RCV000419440 RCV000433007 RCV000431000 RCV000431872 RCV000421639 RCV000436932 RCV000438815 RCV000425548 RCV000441707 RCV000442348 RCV000430763 RCV000435811 RCV000445059 RCV000709693 RCV001255687 RCV001728093 RCV001730477 RCV001327962 RCV001836714 RCV003458190 RCV003987334 RCV002513230 RCV004532404 RCV004527296 RCV003764635
dbSNP Id: rs121913273
COSMIC: COSM760 COSM125369
MyVariant Identifiers: chr3:g.178936082G>A (hg19) chr3:g.179218294G>A (hg38)
CIViC: CA333572
PubMed: PMID:15016963 PMID:15254419 PMID:15647370 PMID:15805248 PMID:16906227 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22658544 PMID:23946963 PMID:24559322 PMID:25157968 PMID:26619011 PMID:26851524
ERepo: CA333572/MONDO:0016054/018 CA333572/MONDO:0100283/018
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179218294G>A , CM000665.2:g.179218294G>A GRCh38
NC_000003.11:g.178936082G>A , CM000665.1:g.178936082G>A GRCh37
NC_000003.10:g.180418776G>A NCBI36
NG_012113.2:g.74772G>A , LRG_310:g.74772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263967.4:c.1624G>A MANE Select ENSP00000263967.3:p.Glu542Lys
ENST00000462255.2:n.86G>A
ENST00000643187.1:c.1624G>A ENSP00000493507.1:p.Glu542Lys
ENST00000674534.1:n.1378G>A
ENST00000674622.1:c.127G>A ENSP00000502417.1:p.Glu43Lys
ENST00000675467.1:n.4431G>A
ENST00000675786.1:c.*191G>A ENSP00000502323.1:n.*191G>A
ENST00000263967.3:c.1624G>A ENSP00000263967.3:p.Glu542Lys
NM_006218.2:c.1624G>A , LRG_310t1:c.1624G>A NP_006209.2:p.Glu542Lys
XM_006713658.2:c.1624G>A XP_006713721.1:p.Glu542Lys
XM_011512894.1:c.1624G>A XP_011511196.1:p.Glu542Lys
NM_006218.3:c.1624G>A NP_006209.2:p.Glu542Lys
XM_006713658.4:c.1624G>A XP_006713721.1:p.Glu542Lys
XM_011512894.2:c.1624G>A XP_011511196.1:p.Glu542Lys
NM_006218.4:c.1624G>A MANE Select NP_006209.2:p.Glu542Lys
Search 100 bp 5'
Search 100 bp 3'