Canonical Allele Identifier: CA359882583

Gene: PIK3R1

Linked Data

• MyVariant Identifiers: chr5:g.67590999T>A (hg19) ; chr5:g.68295171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295171T>A , CM000667.2:g.68295171T>A	GRCh38
NC_000005.9:g.67590999T>A , CM000667.1:g.67590999T>A	GRCh37
NC_000005.8:g.67626755T>A	NCBI36
NG_012849.2:g.84416T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.692T>A	ENSP00000323512.8:p.Leu231Ter
ENST00000336483.10:c.782T>A	ENSP00000338554.5:p.Leu261Ter
ENST00000517643.2:c.1592T>A	ENSP00000513333.1:p.Leu531Ter
ENST00000517698.6:c.*562T>A	ENSP00000430424.1:n.*562T>A
ENST00000521657.6:c.1592T>A	ENSP00000429277.1:p.Leu531Ter
ENST00000522084.6:c.782T>A	ENSP00000429766.2:p.Leu261Ter
ENST00000697457.1:c.1517T>A	ENSP00000513315.1:p.Leu506Ter
ENST00000697458.1:c.1592T>A	ENSP00000513316.1:p.Leu531Ter
ENST00000697460.1:c.1067T>A	ENSP00000513318.1:p.Leu356Ter
ENST00000697461.1:c.1592T>A	ENSP00000513319.1:p.Leu531Ter
ENST00000697462.1:c.782T>A	ENSP00000513320.1:p.Leu261Ter
ENST00000697463.1:n.1233T>A
ENST00000697464.1:c.*558T>A	ENSP00000513322.1:n.*558T>A
ENST00000697465.1:c.629T>A	ENSP00000513323.1:p.Leu210Ter
ENST00000697466.1:c.599T>A	ENSP00000513324.1:p.Leu200Ter
ENST00000697467.1:c.503T>A	ENSP00000513325.1:p.Leu168Ter
ENST00000697468.1:c.575T>A	ENSP00000513326.1:p.Leu192Ter
ENST00000697469.1:c.284T>A	ENSP00000513327.1:p.Leu95Ter
ENST00000697470.1:c.188T>A	ENSP00000513328.1:p.Leu63Ter
ENST00000697557.1:c.575T>A	ENSP00000513335.1:p.Leu192Ter
ENST00000521381.6:c.1592T>A MANE Select	ENSP00000428056.1:p.Leu531Ter
ENST00000320694.12:c.692T>A	ENSP00000323512.8:p.Leu231Ter
ENST00000336483.9:c.782T>A	ENSP00000338554.5:p.Leu261Ter
ENST00000517698.5:c.*562T>A	ENSP00000430424.1:n.*562T>A
ENST00000518813.5:n.2135T>A
ENST00000520550.1:n.991T>A
ENST00000521381.5:c.1592T>A	ENSP00000428056.1:p.Leu531Ter
ENST00000521657.5:c.1592T>A	ENSP00000429277.1:p.Leu531Ter
ENST00000523872.1:c.503T>A	ENSP00000430098.1:p.Leu168Ter
NM_001242466.1:c.503T>A	NP_001229395.1:p.Leu168Ter
NM_181504.3:c.782T>A	NP_852556.2:p.Leu261Ter
NM_181523.2:c.1592T>A	NP_852664.1:p.Leu531Ter
NM_181524.1:c.692T>A	NP_852665.1:p.Leu231Ter
XM_005248542.2:c.1592T>A	XP_005248599.1:p.Leu531Ter
XM_011543493.1:c.1265T>A	XP_011541795.1:p.Leu422Ter
XM_005248542.3:c.1592T>A	XP_005248599.1:p.Leu531Ter
XM_011543493.3:c.1265T>A	XP_011541795.1:p.Leu422Ter
XM_017009585.2:c.1592T>A	XP_016865074.1:p.Leu531Ter
XM_017009586.1:c.1319T>A	XP_016865075.1:p.Leu440Ter
NM_181523.3:c.1592T>A MANE Select	NP_852664.1:p.Leu531Ter
NM_001242466.2:c.503T>A	NP_001229395.1:p.Leu168Ter
NM_181504.4:c.782T>A	NP_852556.2:p.Leu261Ter
NM_181524.2:c.692T>A	NP_852665.1:p.Leu231Ter