Canonical Allele Identifier: CA359882972
Gene: PIK3R1 HGNC NCBI

Linked Data

dbSNP Id: rs2112275640

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295242G>A , CM000667.2:g.68295242G>A GRCh38
NC_000005.9:g.67591070G>A , CM000667.1:g.67591070G>A GRCh37
NC_000005.8:g.67626826G>A NCBI36
NG_012849.2:g.84487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.763G>A ENSP00000323512.8:p.Glu255Lys
ENST00000336483.10:c.853G>A ENSP00000338554.5:p.Glu285Lys
ENST00000517643.2:c.1663G>A ENSP00000513333.1:p.Glu555Lys
ENST00000517698.6:c.*633G>A ENSP00000430424.1:n.*633G>A
ENST00000521657.6:c.1663G>A ENSP00000429277.1:p.Glu555Lys
ENST00000522084.6:c.853G>A ENSP00000429766.2:p.Glu285Lys
ENST00000697457.1:c.1588G>A ENSP00000513315.1:p.Glu530Lys
ENST00000697458.1:c.1663G>A ENSP00000513316.1:p.Glu555Lys
ENST00000697460.1:c.1138G>A ENSP00000513318.1:p.Glu380Lys
ENST00000697461.1:c.1663G>A ENSP00000513319.1:p.Glu555Lys
ENST00000697462.1:c.853G>A ENSP00000513320.1:p.Glu285Lys
ENST00000697463.1:n.1304G>A
ENST00000697464.1:c.*629G>A ENSP00000513322.1:n.*629G>A
ENST00000697465.1:c.700G>A ENSP00000513323.1:p.Glu234Lys
ENST00000697466.1:c.670G>A ENSP00000513324.1:p.Glu224Lys
ENST00000697467.1:c.574G>A ENSP00000513325.1:p.Glu192Lys
ENST00000697468.1:c.646G>A ENSP00000513326.1:p.Glu216Lys
ENST00000697469.1:c.355G>A ENSP00000513327.1:p.Glu119Lys
ENST00000697470.1:c.259G>A ENSP00000513328.1:p.Glu87Lys
ENST00000697557.1:c.646G>A ENSP00000513335.1:p.Glu216Lys
ENST00000521381.6:c.1663G>A MANE Select ENSP00000428056.1:p.Glu555Lys
ENST00000320694.12:c.763G>A ENSP00000323512.8:p.Glu255Lys
ENST00000336483.9:c.853G>A ENSP00000338554.5:p.Glu285Lys
ENST00000517698.5:c.*633G>A ENSP00000430424.1:n.*633G>A
ENST00000518813.5:n.2206G>A
ENST00000520550.1:n.1062G>A
ENST00000521381.5:c.1663G>A ENSP00000428056.1:p.Glu555Lys
ENST00000521657.5:c.1663G>A ENSP00000429277.1:p.Glu555Lys
ENST00000523872.1:c.574G>A ENSP00000430098.1:p.Glu192Lys
NM_001242466.1:c.574G>A NP_001229395.1:p.Glu192Lys
NM_181504.3:c.853G>A NP_852556.2:p.Glu285Lys
NM_181523.2:c.1663G>A NP_852664.1:p.Glu555Lys
NM_181524.1:c.763G>A NP_852665.1:p.Glu255Lys
XM_005248542.2:c.1663G>A XP_005248599.1:p.Glu555Lys
XM_011543493.1:c.1336G>A XP_011541795.1:p.Glu446Lys
XM_005248542.3:c.1663G>A XP_005248599.1:p.Glu555Lys
XM_011543493.3:c.1336G>A XP_011541795.1:p.Glu446Lys
XM_017009585.2:c.1663G>A XP_016865074.1:p.Glu555Lys
XM_017009586.1:c.1390G>A XP_016865075.1:p.Glu464Lys
NM_181523.3:c.1663G>A MANE Select NP_852664.1:p.Glu555Lys
NM_001242466.2:c.574G>A NP_001229395.1:p.Glu192Lys
NM_181504.4:c.853G>A NP_852556.2:p.Glu285Lys
NM_181524.2:c.763G>A NP_852665.1:p.Glu255Lys