Canonical Allele Identifier: CA359882947

Gene: PIK3R1

Linked Data

• dbSNP Id: rs2112275456
• MyVariant Identifiers: chr5:g.67591061C>A (hg19) ; chr5:g.68295233C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295233C>A , CM000667.2:g.68295233C>A	GRCh38
NC_000005.9:g.67591061C>A , CM000667.1:g.67591061C>A	GRCh37
NC_000005.8:g.67626817C>A	NCBI36
NG_012849.2:g.84478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.754C>A	ENSP00000323512.8:p.Gln252Lys
ENST00000336483.10:c.844C>A	ENSP00000338554.5:p.Gln282Lys
ENST00000517643.2:c.1654C>A	ENSP00000513333.1:p.Gln552Lys
ENST00000517698.6:c.*624C>A	ENSP00000430424.1:n.*624C>A
ENST00000521657.6:c.1654C>A	ENSP00000429277.1:p.Gln552Lys
ENST00000522084.6:c.844C>A	ENSP00000429766.2:p.Gln282Lys
ENST00000697457.1:c.1579C>A	ENSP00000513315.1:p.Gln527Lys
ENST00000697458.1:c.1654C>A	ENSP00000513316.1:p.Gln552Lys
ENST00000697460.1:c.1129C>A	ENSP00000513318.1:p.Gln377Lys
ENST00000697461.1:c.1654C>A	ENSP00000513319.1:p.Gln552Lys
ENST00000697462.1:c.844C>A	ENSP00000513320.1:p.Gln282Lys
ENST00000697463.1:n.1295C>A
ENST00000697464.1:c.*620C>A	ENSP00000513322.1:n.*620C>A
ENST00000697465.1:c.691C>A	ENSP00000513323.1:p.Gln231Lys
ENST00000697466.1:c.661C>A	ENSP00000513324.1:p.Gln221Lys
ENST00000697467.1:c.565C>A	ENSP00000513325.1:p.Gln189Lys
ENST00000697468.1:c.637C>A	ENSP00000513326.1:p.Gln213Lys
ENST00000697469.1:c.346C>A	ENSP00000513327.1:p.Gln116Lys
ENST00000697470.1:c.250C>A	ENSP00000513328.1:p.Gln84Lys
ENST00000697557.1:c.637C>A	ENSP00000513335.1:p.Gln213Lys
ENST00000521381.6:c.1654C>A MANE Select	ENSP00000428056.1:p.Gln552Lys
ENST00000320694.12:c.754C>A	ENSP00000323512.8:p.Gln252Lys
ENST00000336483.9:c.844C>A	ENSP00000338554.5:p.Gln282Lys
ENST00000517698.5:c.*624C>A	ENSP00000430424.1:n.*624C>A
ENST00000518813.5:n.2197C>A
ENST00000520550.1:n.1053C>A
ENST00000521381.5:c.1654C>A	ENSP00000428056.1:p.Gln552Lys
ENST00000521657.5:c.1654C>A	ENSP00000429277.1:p.Gln552Lys
ENST00000523872.1:c.565C>A	ENSP00000430098.1:p.Gln189Lys
NM_001242466.1:c.565C>A	NP_001229395.1:p.Gln189Lys
NM_181504.3:c.844C>A	NP_852556.2:p.Gln282Lys
NM_181523.2:c.1654C>A	NP_852664.1:p.Gln552Lys
NM_181524.1:c.754C>A	NP_852665.1:p.Gln252Lys
XM_005248542.2:c.1654C>A	XP_005248599.1:p.Gln552Lys
XM_011543493.1:c.1327C>A	XP_011541795.1:p.Gln443Lys
XM_005248542.3:c.1654C>A	XP_005248599.1:p.Gln552Lys
XM_011543493.3:c.1327C>A	XP_011541795.1:p.Gln443Lys
XM_017009585.2:c.1654C>A	XP_016865074.1:p.Gln552Lys
XM_017009586.1:c.1381C>A	XP_016865075.1:p.Gln461Lys
NM_181523.3:c.1654C>A MANE Select	NP_852664.1:p.Gln552Lys
NM_001242466.2:c.565C>A	NP_001229395.1:p.Gln189Lys
NM_181504.4:c.844C>A	NP_852556.2:p.Gln282Lys
NM_181524.2:c.754C>A	NP_852665.1:p.Gln252Lys