Canonical Allele Identifier: CA123334

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 13655
• ClinVar RCV Id: RCV000014632 ; RCV000014633 ; RCV000014636 ; RCV000014631 ; RCV000038671 ; RCV000055930 ; RCV000119356 ; RCV000418058 ; RCV000421583 ; RCV000421958 ; RCV000422210 ; RCV000426520 ; RCV000417835 ; RCV000420851 ; RCV000437876 ; RCV000438060 ; RCV000438587 ; RCV000433976 ; RCV000423327 ; RCV000441949 ; RCV000438445 ; RCV000440694 ; RCV000427202 ; RCV000428639 ; RCV000429391 ; RCV000441866 ; RCV000431416 ; RCV000432636 ; RCV000433152 ; RCV000440053 ; RCV000425490 ; RCV000442569 ; RCV001262721 ; RCV001290591 ; RCV001092440 ; RCV001374447 ; RCV001705591 ; RCV001786329 ; RCV001327963 ; RCV001730473 ; RCV003764575 ; RCV002508125 ; RCV004527293 ; RCV004527294 ; RCV004527295
• dbSNP Id: rs104886003
• ExAC: 3:178936091 G / A
• gnomAD v2: 3-178936091-G-A
• COSMIC: COSM763 ; COSM125370
• MyVariant Identifiers: chr3:g.178936091G>A (hg19) ; chr3:g.179218303G>A (hg38)
• CIViC: CA123334
• PubMed: PMID:15016963 ; PMID:15254419 ; PMID:15520168 ; PMID:15608678 ; PMID:15647370 ; PMID:15805248 ; PMID:16906227 ; PMID:17673550 ; PMID:18676830 ; PMID:18725974 ; PMID:19029981 ; PMID:19223544 ; PMID:19366826 ; PMID:19513541 ; PMID:19903786 ; PMID:20453058 ; PMID:20619739 ; PMID:21430269 ; PMID:22162582 ; PMID:22162589 ; PMID:22271473 ; PMID:22729223 ; PMID:22729224 ; PMID:23888070 ; PMID:23946963 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179218303G>A , CM000665.2:g.179218303G>A	GRCh38
NC_000003.11:g.178936091G>A , CM000665.1:g.178936091G>A	GRCh37
NC_000003.10:g.180418785G>A	NCBI36
NG_012113.2:g.74781G>A , LRG_310:g.74781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.1633G>A MANE Select	ENSP00000263967.3:p.Glu545Lys
ENST00000462255.2:n.95G>A
ENST00000643187.1:c.1633G>A	ENSP00000493507.1:p.Glu545Lys
ENST00000674534.1:n.1387G>A
ENST00000674622.1:c.136G>A	ENSP00000502417.1:p.Glu46Lys
ENST00000675467.1:n.4440G>A
ENST00000675786.1:c.*200G>A	ENSP00000502323.1:n.*200G>A
ENST00000263967.3:c.1633G>A	ENSP00000263967.3:p.Glu545Lys
NM_006218.2:c.1633G>A , LRG_310t1:c.1633G>A	NP_006209.2:p.Glu545Lys
XM_006713658.2:c.1633G>A	XP_006713721.1:p.Glu545Lys
XM_011512894.1:c.1633G>A	XP_011511196.1:p.Glu545Lys
NM_006218.3:c.1633G>A	NP_006209.2:p.Glu545Lys
XM_006713658.4:c.1633G>A	XP_006713721.1:p.Glu545Lys
XM_011512894.2:c.1633G>A	XP_011511196.1:p.Glu545Lys
NM_006218.4:c.1633G>A MANE Select	NP_006209.2:p.Glu545Lys