Canonical Allele Identifier: CA3290118

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68280542G>A , CM000667.2:g.68280542G>A	GRCh38
NC_000005.9:g.67576370G>A , CM000667.1:g.67576370G>A	GRCh37
NC_000005.8:g.67612126G>A	NCBI36
NG_012849.2:g.69787G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181523.3:c.649G>A MANE Select	NP_852664.1:p.Glu217Lys
ENST00000521381.6:c.649G>A MANE Select	ENSP00000428056.1:p.Glu217Lys
NM_181523.2:c.649G>A	NP_852664.1:p.Glu217Lys
ENST00000517643.2:c.649G>A	ENSP00000513333.1:p.Glu217Lys
ENST00000520675.1:c.355G>A	ENSP00000428566.1:p.Glu119Lys
ENST00000521381.5:c.649G>A	ENSP00000428056.1:p.Glu217Lys
ENST00000521657.5:c.649G>A	ENSP00000429277.1:p.Glu217Lys
ENST00000521657.6:c.649G>A	ENSP00000429277.1:p.Glu217Lys
ENST00000522084.5:c.-162G>A	ENSP00000429766.1:n.-162G>A
ENST00000522084.6:c.-162G>A	ENSP00000429766.2:n.-162G>A
ENST00000523807.5:c.-162G>A	ENSP00000430126.1:n.-162G>A
ENST00000697457.1:c.574G>A	ENSP00000513315.1:p.Glu192Lys
ENST00000697458.1:c.649G>A	ENSP00000513316.1:p.Glu217Lys
ENST00000697460.1:c.124G>A	ENSP00000513318.1:p.Glu42Lys
ENST00000697461.1:c.649G>A	ENSP00000513319.1:p.Glu217Lys
ENST00000697556.1:c.556G>A	ENSP00000513334.1:p.Glu186Lys
XM_005248542.2:c.649G>A	XP_005248599.1:p.Glu217Lys
XM_005248542.3:c.649G>A	XP_005248599.1:p.Glu217Lys
XM_011543493.1:c.322G>A	XP_011541795.1:p.Glu108Lys
XM_011543493.3:c.322G>A	XP_011541795.1:p.Glu108Lys
XM_017009585.2:c.649G>A	XP_016865074.1:p.Glu217Lys
XM_017009586.1:c.376G>A	XP_016865075.1:p.Glu126Lys