Canonical Allele Identifier: CA359883140

Gene: PIK3R1

Linked Data

• dbSNP Id: rs2112277167
• MyVariant Identifiers: chr5:g.67591142C>T (hg19) ; chr5:g.68295314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295314C>T , CM000667.2:g.68295314C>T	GRCh38
NC_000005.9:g.67591142C>T , CM000667.1:g.67591142C>T	GRCh37
NC_000005.8:g.67626898C>T	NCBI36
NG_012849.2:g.84559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320694.13:c.835C>T	ENSP00000323512.8:p.Gln279Ter
ENST00000336483.10:c.925C>T	ENSP00000338554.5:p.Gln309Ter
ENST00000517643.2:c.1735C>T	ENSP00000513333.1:p.Gln579Ter
ENST00000517698.6:c.*705C>T	ENSP00000430424.1:n.*705C>T
ENST00000521657.6:c.1735C>T	ENSP00000429277.1:p.Gln579Ter
ENST00000522084.6:c.925C>T	ENSP00000429766.2:p.Gln309Ter
ENST00000697457.1:c.1660C>T	ENSP00000513315.1:p.Gln554Ter
ENST00000697458.1:c.1735C>T	ENSP00000513316.1:p.Gln579Ter
ENST00000697460.1:c.1210C>T	ENSP00000513318.1:p.Gln404Ter
ENST00000697461.1:c.1735C>T	ENSP00000513319.1:p.Gln579Ter
ENST00000697462.1:c.925C>T	ENSP00000513320.1:p.Gln309Ter
ENST00000697463.1:n.1376C>T
ENST00000697464.1:c.*701C>T	ENSP00000513322.1:n.*701C>T
ENST00000697465.1:c.772C>T	ENSP00000513323.1:p.Gln258Ter
ENST00000697466.1:c.742C>T	ENSP00000513324.1:p.Gln248Ter
ENST00000697467.1:c.646C>T	ENSP00000513325.1:p.Gln216Ter
ENST00000697468.1:c.718C>T	ENSP00000513326.1:p.Gln240Ter
ENST00000697469.1:c.427C>T	ENSP00000513327.1:p.Gln143Ter
ENST00000697470.1:c.331C>T	ENSP00000513328.1:p.Gln111Ter
ENST00000697557.1:c.718C>T	ENSP00000513335.1:p.Gln240Ter
ENST00000521381.6:c.1735C>T MANE Select	ENSP00000428056.1:p.Gln579Ter
ENST00000320694.12:c.835C>T	ENSP00000323512.8:p.Gln279Ter
ENST00000336483.9:c.925C>T	ENSP00000338554.5:p.Gln309Ter
ENST00000517698.5:c.*705C>T	ENSP00000430424.1:n.*705C>T
ENST00000518813.5:n.2278C>T
ENST00000520550.1:n.1134C>T
ENST00000521381.5:c.1735C>T	ENSP00000428056.1:p.Gln579Ter
ENST00000521657.5:c.1735C>T	ENSP00000429277.1:p.Gln579Ter
ENST00000523872.1:c.646C>T	ENSP00000430098.1:p.Gln216Ter
NM_001242466.1:c.646C>T	NP_001229395.1:p.Gln216Ter
NM_181504.3:c.925C>T	NP_852556.2:p.Gln309Ter
NM_181523.2:c.1735C>T	NP_852664.1:p.Gln579Ter
NM_181524.1:c.835C>T	NP_852665.1:p.Gln279Ter
XM_005248542.2:c.1735C>T	XP_005248599.1:p.Gln579Ter
XM_011543493.1:c.1408C>T	XP_011541795.1:p.Gln470Ter
XM_005248542.3:c.1735C>T	XP_005248599.1:p.Gln579Ter
XM_011543493.3:c.1408C>T	XP_011541795.1:p.Gln470Ter
XM_017009585.2:c.1735C>T	XP_016865074.1:p.Gln579Ter
XM_017009586.1:c.1462C>T	XP_016865075.1:p.Gln488Ter
NM_181523.3:c.1735C>T MANE Select	NP_852664.1:p.Gln579Ter
NM_001242466.2:c.646C>T	NP_001229395.1:p.Gln216Ter
NM_181504.4:c.925C>T	NP_852556.2:p.Gln309Ter
NM_181524.2:c.835C>T	NP_852665.1:p.Gln279Ter