Canonical Allele Identifier: CA355285817

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 1333708
• ClinVar RCV Id: RCV001808924
• dbSNP Id: rs1057519936
• MyVariant Identifiers: chr3:g.178952072A>C (hg19) ; chr3:g.179234284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179234284A>C , CM000665.2:g.179234284A>C	GRCh38
NC_000003.11:g.178952072A>C , CM000665.1:g.178952072A>C	GRCh37
NC_000003.10:g.180434766A>C	NCBI36
NG_012113.2:g.90762A>C , LRG_310:g.90762A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.3127A>C MANE Select	ENSP00000263967.3:p.Met1043Leu
ENST00000462255.2:n.2150A>C
ENST00000643187.1:c.*207A>C	ENSP00000493507.1:n.*207A>C
ENST00000674534.1:n.4035A>C
ENST00000674622.1:c.1548A>C	ENSP00000502417.1:n.1548A>C
ENST00000675467.1:n.5934A>C
ENST00000675786.1:c.*1694A>C	ENSP00000502323.1:n.*1694A>C
ENST00000675796.1:n.3022A>C
ENST00000263967.3:c.3127A>C	ENSP00000263967.3:p.Met1043Leu
NM_006218.2:c.3127A>C , LRG_310t1:c.3127A>C	NP_006209.2:p.Met1043Leu
XM_006713658.2:c.3127A>C	XP_006713721.1:p.Met1043Leu
XM_011512894.1:c.3127A>C	XP_011511196.1:p.Met1043Leu
NM_006218.3:c.3127A>C	NP_006209.2:p.Met1043Leu
XM_006713658.4:c.3127A>C	XP_006713721.1:p.Met1043Leu
XM_011512894.2:c.3127A>C	XP_011511196.1:p.Met1043Leu
NM_006218.4:c.3127A>C MANE Select	NP_006209.2:p.Met1043Leu