Canonical Allele Identifier: CA123328

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 13653
• ClinVar RCV Id: RCV000014629 ; RCV000032905 ; RCV000423048 ; RCV000427278 ; RCV000427664 ; RCV000428229 ; RCV000428866 ; RCV000418190 ; RCV000418315 ; RCV000434398 ; RCV000423706 ; RCV000425496 ; RCV000201235 ; RCV000442340 ; RCV000443510 ; RCV000422323 ; RCV000626894 ; RCV000424813 ; RCV000434874 ; RCV000435425 ; RCV000435543 ; RCV000987367 ; RCV000417557 ; RCV001253236 ; RCV000429614 ; RCV000433765 ; RCV000438270 ; RCV000439524 ; RCV000440269 ; RCV000443341 ; RCV001728092 ; RCV002254265 ; RCV000709692 ; RCV001807728 ; RCV004527292 ; RCV001526597
• dbSNP Id: rs121913279
• ExAC: 3:178952085 A / T
• gnomAD v2: 3-178952085-A-T
• COSMIC: COSM776 ; COSM94987
• MyVariant Identifiers: chr3:g.178952085A>T (hg19) ; chr3:g.179234297A>T (hg38)
• CIViC: CA123328
• PubMed: PMID:15016963 ; PMID:15254419 ; PMID:15520168 ; PMID:15647370 ; PMID:15805248 ; PMID:16906227 ; PMID:18676830 ; PMID:18725974 ; PMID:19029981 ; PMID:19366826 ; PMID:19513541 ; PMID:19903786 ; PMID:20453058 ; PMID:20619739 ; PMID:21430269 ; PMID:22162582 ; PMID:22162589 ; PMID:22271473 ; PMID:22729222 ; PMID:23946963 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179234297A>T , CM000665.2:g.179234297A>T	GRCh38
NC_000003.11:g.178952085A>T , CM000665.1:g.178952085A>T	GRCh37
NC_000003.10:g.180434779A>T	NCBI36
NG_012113.2:g.90775A>T , LRG_310:g.90775A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.3140A>T MANE Select	ENSP00000263967.3:p.His1047Leu
ENST00000462255.2:n.2163A>T
ENST00000643187.1:c.*220A>T	ENSP00000493507.1:n.*220A>T
ENST00000674534.1:n.4048A>T
ENST00000674622.1:c.1561A>T	ENSP00000502417.1:n.1561A>T
ENST00000675467.1:n.5947A>T
ENST00000675786.1:c.*1707A>T	ENSP00000502323.1:n.*1707A>T
ENST00000675796.1:n.3035A>T
ENST00000263967.3:c.3140A>T	ENSP00000263967.3:p.His1047Leu
NM_006218.2:c.3140A>T , LRG_310t1:c.3140A>T	NP_006209.2:p.His1047Leu
XM_006713658.2:c.3140A>T	XP_006713721.1:p.His1047Leu
XM_011512894.1:c.3140A>T	XP_011511196.1:p.His1047Leu
NM_006218.3:c.3140A>T	NP_006209.2:p.His1047Leu
XM_006713658.4:c.3140A>T	XP_006713721.1:p.His1047Leu
XM_011512894.2:c.3140A>T	XP_011511196.1:p.His1047Leu
NM_006218.4:c.3140A>T MANE Select	NP_006209.2:p.His1047Leu