Canonical Allele Identifier: CA123331

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 13654
• ClinVar RCV Id: RCV000014630 ; RCV000420029 ; RCV000421157 ; RCV000421383 ; RCV000422486 ; RCV000427915 ; RCV000431151 ; RCV000432516 ; RCV000432772 ; RCV000437696 ; RCV000439013 ; RCV000441411 ; RCV000441934 ; RCV000442905
• dbSNP Id: rs121913286
• COSMIC: COSM6147 ; COSM1566572
• MyVariant Identifiers: chr3:g.178936094C>G (hg19) ; chr3:g.179218306C>G (hg38)
• CIViC: CA123331
• 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:26619011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263967.4:c.1636C>G MANE Select	ENSP00000263967.3:p.Gln546Glu
ENST00000462255.2:n.98C>G
ENST00000643187.1:c.1636C>G	ENSP00000493507.1:p.Gln546Glu
ENST00000674534.1:n.1390C>G
ENST00000674622.1:c.139C>G	ENSP00000502417.1:p.Gln47Glu
ENST00000675467.1:n.4443C>G
ENST00000675786.1:c.*203C>G	ENSP00000502323.1:n.*203C>G
ENST00000263967.3:c.1636C>G	ENSP00000263967.3:p.Gln546Glu
NM_006218.2:c.1636C>G , LRG_310t1:c.1636C>G	NP_006209.2:p.Gln546Glu
XM_006713658.2:c.1636C>G	XP_006713721.1:p.Gln546Glu
XM_011512894.1:c.1636C>G	XP_011511196.1:p.Gln546Glu
NM_006218.3:c.1636C>G	NP_006209.2:p.Gln546Glu
XM_006713658.4:c.1636C>G	XP_006713721.1:p.Gln546Glu
XM_011512894.2:c.1636C>G	XP_011511196.1:p.Gln546Glu
NM_006218.4:c.1636C>G MANE Select	NP_006209.2:p.Gln546Glu