Canonical Allele Identifier: CA359882589

Gene: PIK3R1

Linked Data

• dbSNP Id: rs2112274332
• MyVariant Identifiers: chr5:g.67591000G>C (hg19) ; chr5:g.68295172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295172G>C , CM000667.2:g.68295172G>C	GRCh38
NC_000005.9:g.67591000G>C , CM000667.1:g.67591000G>C	GRCh37
NC_000005.8:g.67626756G>C	NCBI36
NG_012849.2:g.84417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.693G>C	ENSP00000323512.8:p.Leu231Phe
ENST00000336483.10:c.783G>C	ENSP00000338554.5:p.Leu261Phe
ENST00000517643.2:c.1593G>C	ENSP00000513333.1:p.Leu531Phe
ENST00000517698.6:c.*563G>C	ENSP00000430424.1:n.*563G>C
ENST00000521657.6:c.1593G>C	ENSP00000429277.1:p.Leu531Phe
ENST00000522084.6:c.783G>C	ENSP00000429766.2:p.Leu261Phe
ENST00000697457.1:c.1518G>C	ENSP00000513315.1:p.Leu506Phe
ENST00000697458.1:c.1593G>C	ENSP00000513316.1:p.Leu531Phe
ENST00000697460.1:c.1068G>C	ENSP00000513318.1:p.Leu356Phe
ENST00000697461.1:c.1593G>C	ENSP00000513319.1:p.Leu531Phe
ENST00000697462.1:c.783G>C	ENSP00000513320.1:p.Leu261Phe
ENST00000697463.1:n.1234G>C
ENST00000697464.1:c.*559G>C	ENSP00000513322.1:n.*559G>C
ENST00000697465.1:c.630G>C	ENSP00000513323.1:p.Leu210Phe
ENST00000697466.1:c.600G>C	ENSP00000513324.1:p.Leu200Phe
ENST00000697467.1:c.504G>C	ENSP00000513325.1:p.Leu168Phe
ENST00000697468.1:c.576G>C	ENSP00000513326.1:p.Leu192Phe
ENST00000697469.1:c.285G>C	ENSP00000513327.1:p.Leu95Phe
ENST00000697470.1:c.189G>C	ENSP00000513328.1:p.Leu63Phe
ENST00000697557.1:c.576G>C	ENSP00000513335.1:p.Leu192Phe
ENST00000521381.6:c.1593G>C MANE Select	ENSP00000428056.1:p.Leu531Phe
ENST00000320694.12:c.693G>C	ENSP00000323512.8:p.Leu231Phe
ENST00000336483.9:c.783G>C	ENSP00000338554.5:p.Leu261Phe
ENST00000517698.5:c.*563G>C	ENSP00000430424.1:n.*563G>C
ENST00000518813.5:n.2136G>C
ENST00000520550.1:n.992G>C
ENST00000521381.5:c.1593G>C	ENSP00000428056.1:p.Leu531Phe
ENST00000521657.5:c.1593G>C	ENSP00000429277.1:p.Leu531Phe
ENST00000523872.1:c.504G>C	ENSP00000430098.1:p.Leu168Phe
NM_001242466.1:c.504G>C	NP_001229395.1:p.Leu168Phe
NM_181504.3:c.783G>C	NP_852556.2:p.Leu261Phe
NM_181523.2:c.1593G>C	NP_852664.1:p.Leu531Phe
NM_181524.1:c.693G>C	NP_852665.1:p.Leu231Phe
XM_005248542.2:c.1593G>C	XP_005248599.1:p.Leu531Phe
XM_011543493.1:c.1266G>C	XP_011541795.1:p.Leu422Phe
XM_005248542.3:c.1593G>C	XP_005248599.1:p.Leu531Phe
XM_011543493.3:c.1266G>C	XP_011541795.1:p.Leu422Phe
XM_017009585.2:c.1593G>C	XP_016865074.1:p.Leu531Phe
XM_017009586.1:c.1320G>C	XP_016865075.1:p.Leu440Phe
NM_181523.3:c.1593G>C MANE Select	NP_852664.1:p.Leu531Phe
NM_001242466.2:c.504G>C	NP_001229395.1:p.Leu168Phe
NM_181504.4:c.783G>C	NP_852556.2:p.Leu261Phe
NM_181524.2:c.693G>C	NP_852665.1:p.Leu231Phe