Canonical Allele Identifier: CA136365

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 45464
• ClinVar RCV Id: RCV000038669 ; RCV001256198 ; RCV003458192 ; RCV004534818
• dbSNP Id: rs397517199
• COSMIC: COSM12582 ; COSM673907
• MyVariant Identifiers: chr3:g.178927974G>A (hg19) ; chr3:g.179210186G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179210186G>A , CM000665.2:g.179210186G>A	GRCh38
NC_000003.11:g.178927974G>A , CM000665.1:g.178927974G>A	GRCh37
NC_000003.10:g.180410668G>A	NCBI36
NG_012113.2:g.66664G>A , LRG_310:g.66664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.1252G>A MANE Select	ENSP00000263967.3:p.Glu418Lys
ENST00000643187.1:c.1252G>A	ENSP00000493507.1:p.Glu418Lys
ENST00000674534.1:n.1006G>A
ENST00000675467.1:n.4059G>A
ENST00000675786.1:c.1252G>A	ENSP00000502323.1:p.Glu418Lys
ENST00000263967.3:c.1252G>A	ENSP00000263967.3:p.Glu418Lys
NM_006218.2:c.1252G>A , LRG_310t1:c.1252G>A	NP_006209.2:p.Glu418Lys
XM_006713658.2:c.1252G>A	XP_006713721.1:p.Glu418Lys
XM_011512894.1:c.1252G>A	XP_011511196.1:p.Glu418Lys
NM_006218.3:c.1252G>A	NP_006209.2:p.Glu418Lys
XM_006713658.4:c.1252G>A	XP_006713721.1:p.Glu418Lys
XM_011512894.2:c.1252G>A	XP_011511196.1:p.Glu418Lys
NM_006218.4:c.1252G>A MANE Select	NP_006209.2:p.Glu418Lys