Canonical Allele Identifier: CA123338

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 13657
• ClinVar RCV Id: RCV000014639 ; RCV000014640 ; RCV000201230 ; RCV000205164 ; RCV000424106 ; RCV000426539 ; RCV000419967 ; RCV000421680 ; RCV000425454 ; RCV000431780 ; RCV000431921 ; RCV000430236 ; RCV000430641 ; RCV000436763 ; RCV000441825 ; RCV000443162 ; RCV000436582 ; RCV000442123 ; RCV000442141 ; RCV001705592 ; RCV001762046
• dbSNP Id: rs121913286
• COSMIC: COSM766 ; COSM255876
• MyVariant Identifiers: chr3:g.178936094C>A (hg19) ; chr3:g.179218306C>A (hg38)
• CIViC: CA123338
• PubMed: PMID:15016963 ; PMID:15254419 ; PMID:15520168 ; PMID:15647370 ; PMID:15805248 ; PMID:18676830 ; PMID:18725974 ; PMID:19366826 ; PMID:19903786 ; PMID:20453058 ; PMID:20619739 ; PMID:22162582 ; PMID:22162589 ; PMID:22271473 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179218306C>A , CM000665.2:g.179218306C>A	GRCh38
NC_000003.11:g.178936094C>A , CM000665.1:g.178936094C>A	GRCh37
NC_000003.10:g.180418788C>A	NCBI36
NG_012113.2:g.74784C>A , LRG_310:g.74784C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.1636C>A MANE Select	ENSP00000263967.3:p.Gln546Lys
ENST00000462255.2:n.98C>A
ENST00000643187.1:c.1636C>A	ENSP00000493507.1:p.Gln546Lys
ENST00000674534.1:n.1390C>A
ENST00000674622.1:c.139C>A	ENSP00000502417.1:p.Gln47Lys
ENST00000675467.1:n.4443C>A
ENST00000675786.1:c.*203C>A	ENSP00000502323.1:n.*203C>A
ENST00000263967.3:c.1636C>A	ENSP00000263967.3:p.Gln546Lys
NM_006218.2:c.1636C>A , LRG_310t1:c.1636C>A	NP_006209.2:p.Gln546Lys
XM_006713658.2:c.1636C>A	XP_006713721.1:p.Gln546Lys
XM_011512894.1:c.1636C>A	XP_011511196.1:p.Gln546Lys
NM_006218.3:c.1636C>A	NP_006209.2:p.Gln546Lys
XM_006713658.4:c.1636C>A	XP_006713721.1:p.Gln546Lys
XM_011512894.2:c.1636C>A	XP_011511196.1:p.Gln546Lys
NM_006218.4:c.1636C>A MANE Select	NP_006209.2:p.Gln546Lys