Canonical Allele Identifier: CA2710618

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 456527
• ClinVar RCV Id: RCV000558667 ; RCV002384043 ; RCV003431072 ; RCV004541645
• dbSNP Id: rs375577477
• ExAC: 3:178921547 C / T
• gnomAD v2: 3-178921547-C-T
• gnomAD v3: 3-179203759-C-T
• gnomAD v4: 3-179203759-C-T
• MyVariant Identifiers: chr3:g.178921547C>T (hg19) ; chr3:g.179203759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179203759C>T , CM000665.2:g.179203759C>T	GRCh38
NC_000003.11:g.178921547C>T , CM000665.1:g.178921547C>T	GRCh37
NC_000003.10:g.180404241C>T	NCBI36
NG_012113.2:g.60237C>T , LRG_310:g.60237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.1029C>T MANE Select	ENSP00000263967.3:p.Tyr343=
ENST00000643187.1:c.1029C>T	ENSP00000493507.1:p.Tyr343=
ENST00000674534.1:n.783C>T
ENST00000675467.1:n.3836C>T
ENST00000675786.1:c.1029C>T	ENSP00000502323.1:p.Tyr343=
ENST00000263967.3:c.1029C>T	ENSP00000263967.3:p.Tyr343=
NM_006218.2:c.1029C>T , LRG_310t1:c.1029C>T	NP_006209.2:p.Tyr343=
XM_006713658.2:c.1029C>T	XP_006713721.1:p.Tyr343=
XM_011512894.1:c.1029C>T	XP_011511196.1:p.Tyr343=
NM_006218.3:c.1029C>T	NP_006209.2:p.Tyr343=
XM_006713658.4:c.1029C>T	XP_006713721.1:p.Tyr343=
XM_011512894.2:c.1029C>T	XP_011511196.1:p.Tyr343=
NM_006218.4:c.1029C>T MANE Select	NP_006209.2:p.Tyr343=