Canonical Allele Identifier: CA123326

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 13652
• ClinVar RCV Id: RCV000014622 ; RCV000014623 ; RCV000014624 ; RCV000014626 ; RCV000014627 ; RCV000014628 ; RCV000024621 ; RCV000154516 ; RCV000201231 ; RCV000419938 ; RCV000420562 ; RCV000421855 ; RCV000422442 ; RCV000425956 ; RCV000426498 ; RCV000426614 ; RCV000428372 ; RCV000430589 ; RCV000431232 ; RCV000432506 ; RCV000432543 ; RCV000433127 ; RCV000436234 ; RCV000437153 ; RCV000437287 ; RCV000437782 ; RCV000438435 ; RCV000442164 ; RCV000442731 ; RCV000442736 ; RCV000443546 ; RCV000487449 ; RCV000709691 ; RCV001092442
• dbSNP Id: rs121913279
• ExAC: 3:178952085 A / G
• gnomAD v2: 3-178952085-A-G
• COSMIC: COSM775 ; COSM94986
• MyVariant Identifiers: chr3:g.178952085A>G (hg19) ; chr3:g.179234297A>G (hg38)
• ERepo: CA123326/MONDO:0016054/018 ; CA123326/MONDO:0100283/018
• 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:21558396 ; PMID:22162582 ; PMID:22162589 ; PMID:22271473 ; PMID:22658544 ; PMID:22729222 ; PMID:23946963 ; PMID:25157968 ; PMID:26619011 ; PMID:26822237 ; PMID:27626068
• CIViC: CA123326

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263967.4:c.3140A>G MANE Select	ENSP00000263967.3:p.His1047Arg
ENST00000462255.2:n.2163A>G
ENST00000643187.1:c.*220A>G	ENSP00000493507.1:n.*220A>G
ENST00000674534.1:n.4048A>G
ENST00000674622.1:c.1561A>G	ENSP00000502417.1:n.1561A>G
ENST00000675467.1:n.5947A>G
ENST00000675786.1:c.*1707A>G	ENSP00000502323.1:n.*1707A>G
ENST00000675796.1:n.3035A>G
ENST00000263967.3:c.3140A>G	ENSP00000263967.3:p.His1047Arg
NM_006218.2:c.3140A>G , LRG_310t1:c.3140A>G	NP_006209.2:p.His1047Arg
XM_006713658.2:c.3140A>G	XP_006713721.1:p.His1047Arg
XM_011512894.1:c.3140A>G	XP_011511196.1:p.His1047Arg
NM_006218.3:c.3140A>G	NP_006209.2:p.His1047Arg
XM_006713658.4:c.3140A>G	XP_006713721.1:p.His1047Arg
XM_011512894.2:c.3140A>G	XP_011511196.1:p.His1047Arg
NM_006218.4:c.3140A>G MANE Select	NP_006209.2:p.His1047Arg