Canonical Allele Identifier: CA16602909

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 376475
• ClinVar RCV Id: RCV000418283 ; RCV000423223 ; RCV000423683 ; RCV000422972 ; RCV000425864 ; RCV000425192 ; RCV000428975 ; RCV000430389 ; RCV000436379 ; RCV000434370 ; RCV000434554 ; RCV000435067 ; RCV000440193 ; RCV000442694 ; RCV000442566 ; RCV000443286 ; RCV000623233 ; RCV001821146
• dbSNP Id: rs1057519927
• COSMIC: COSM761 ; COSM446011
• MyVariant Identifiers: chr3:g.178936083A>G (hg19) ; chr3:g.179218295A>G (hg38)
• PubMed: PMID:16847462 ; PMID:17376864 ; PMID:22228622 ; PMID:22729224 ; PMID:23246288 ; PMID:23754335 ; PMID:24497998 ; PMID:25557259 ; PMID:26301495 ; PMID:26593112 ; PMID:26619011 ; PMID:27426476 ; PMID:27631024 ; PMID:27870750 ; PMID:28941273

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179218295A>G , CM000665.2:g.179218295A>G	GRCh38
NC_000003.11:g.178936083A>G , CM000665.1:g.178936083A>G	GRCh37
NC_000003.10:g.180418777A>G	NCBI36
NG_012113.2:g.74773A>G , LRG_310:g.74773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.1625A>G MANE Select	ENSP00000263967.3:p.Glu542Gly
ENST00000462255.2:n.87A>G
ENST00000643187.1:c.1625A>G	ENSP00000493507.1:p.Glu542Gly
ENST00000674534.1:n.1379A>G
ENST00000674622.1:c.128A>G	ENSP00000502417.1:p.Glu43Gly
ENST00000675467.1:n.4432A>G
ENST00000675786.1:c.*192A>G	ENSP00000502323.1:n.*192A>G
ENST00000263967.3:c.1625A>G	ENSP00000263967.3:p.Glu542Gly
NM_006218.2:c.1625A>G , LRG_310t1:c.1625A>G	NP_006209.2:p.Glu542Gly
XM_006713658.2:c.1625A>G	XP_006713721.1:p.Glu542Gly
XM_011512894.1:c.1625A>G	XP_011511196.1:p.Glu542Gly
NM_006218.3:c.1625A>G	NP_006209.2:p.Glu542Gly
XM_006713658.4:c.1625A>G	XP_006713721.1:p.Glu542Gly
XM_011512894.2:c.1625A>G	XP_011511196.1:p.Glu542Gly
NM_006218.4:c.1625A>G MANE Select	NP_006209.2:p.Glu542Gly