Canonical Allele Identifier: CA355284926
Community Standard Title: NM_006218.4(PIK3CA):c.3012G>C (p.Met1004Ile)
Gene: PIK3CA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179234169G>C , CM000665.2:g.179234169G>C GRCh38
NC_000003.11:g.178951957G>C , CM000665.1:g.178951957G>C GRCh37
NC_000003.10:g.180434651G>C NCBI36
NG_012113.2:g.90647G>C , LRG_310:g.90647G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006218.4:c.3012G>C MANE Select NP_006209.2:p.Met1004Ile
ENST00000263967.4:c.3012G>C MANE Select ENSP00000263967.3:p.Met1004Ile
NM_006218.2:c.3012G>C , LRG_310t1:c.3012G>C NP_006209.2:p.Met1004Ile
NM_006218.3:c.3012G>C NP_006209.2:p.Met1004Ile
ENST00000263967.3:c.3012G>C ENSP00000263967.3:p.Met1004Ile
ENST00000462255.2:n.2035G>C
ENST00000643187.1:c.*92G>C ENSP00000493507.1:n.*92G>C
ENST00000674534.1:n.3920G>C
ENST00000674622.1:c.1433G>C ENSP00000502417.1:n.1433G>C
ENST00000675467.1:n.5819G>C
ENST00000675786.1:c.*1579G>C ENSP00000502323.1:n.*1579G>C
ENST00000675796.1:n.2907G>C
XM_006713658.2:c.3012G>C XP_006713721.1:p.Met1004Ile
XM_006713658.4:c.3012G>C XP_006713721.1:p.Met1004Ile
XM_011512894.1:c.3012G>C XP_011511196.1:p.Met1004Ile
XM_011512894.2:c.3012G>C XP_011511196.1:p.Met1004Ile