Canonical Allele Identifier: CA359882812
Gene: PIK3R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295207G>T , CM000667.2:g.68295207G>T GRCh38
NC_000005.9:g.67591035G>T , CM000667.1:g.67591035G>T GRCh37
NC_000005.8:g.67626791G>T NCBI36
NG_012849.2:g.84452G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.728G>T ENSP00000323512.8:p.Arg243Ile
ENST00000336483.10:c.818G>T ENSP00000338554.5:p.Arg273Ile
ENST00000517643.2:c.1628G>T ENSP00000513333.1:p.Arg543Ile
ENST00000517698.6:c.*598G>T ENSP00000430424.1:n.*598G>T
ENST00000521657.6:c.1628G>T ENSP00000429277.1:p.Arg543Ile
ENST00000522084.6:c.818G>T ENSP00000429766.2:p.Arg273Ile
ENST00000697457.1:c.1553G>T ENSP00000513315.1:p.Arg518Ile
ENST00000697458.1:c.1628G>T ENSP00000513316.1:p.Arg543Ile
ENST00000697460.1:c.1103G>T ENSP00000513318.1:p.Arg368Ile
ENST00000697461.1:c.1628G>T ENSP00000513319.1:p.Arg543Ile
ENST00000697462.1:c.818G>T ENSP00000513320.1:p.Arg273Ile
ENST00000697463.1:n.1269G>T
ENST00000697464.1:c.*594G>T ENSP00000513322.1:n.*594G>T
ENST00000697465.1:c.665G>T ENSP00000513323.1:p.Arg222Ile
ENST00000697466.1:c.635G>T ENSP00000513324.1:p.Arg212Ile
ENST00000697467.1:c.539G>T ENSP00000513325.1:p.Arg180Ile
ENST00000697468.1:c.611G>T ENSP00000513326.1:p.Arg204Ile
ENST00000697469.1:c.320G>T ENSP00000513327.1:p.Arg107Ile
ENST00000697470.1:c.224G>T ENSP00000513328.1:p.Arg75Ile
ENST00000697557.1:c.611G>T ENSP00000513335.1:p.Arg204Ile
ENST00000521381.6:c.1628G>T MANE Select ENSP00000428056.1:p.Arg543Ile
ENST00000320694.12:c.728G>T ENSP00000323512.8:p.Arg243Ile
ENST00000336483.9:c.818G>T ENSP00000338554.5:p.Arg273Ile
ENST00000517698.5:c.*598G>T ENSP00000430424.1:n.*598G>T
ENST00000518813.5:n.2171G>T
ENST00000520550.1:n.1027G>T
ENST00000521381.5:c.1628G>T ENSP00000428056.1:p.Arg543Ile
ENST00000521657.5:c.1628G>T ENSP00000429277.1:p.Arg543Ile
ENST00000523872.1:c.539G>T ENSP00000430098.1:p.Arg180Ile
NM_001242466.1:c.539G>T NP_001229395.1:p.Arg180Ile
NM_181504.3:c.818G>T NP_852556.2:p.Arg273Ile
NM_181523.2:c.1628G>T NP_852664.1:p.Arg543Ile
NM_181524.1:c.728G>T NP_852665.1:p.Arg243Ile
XM_005248542.2:c.1628G>T XP_005248599.1:p.Arg543Ile
XM_011543493.1:c.1301G>T XP_011541795.1:p.Arg434Ile
XM_005248542.3:c.1628G>T XP_005248599.1:p.Arg543Ile
XM_011543493.3:c.1301G>T XP_011541795.1:p.Arg434Ile
XM_017009585.2:c.1628G>T XP_016865074.1:p.Arg543Ile
XM_017009586.1:c.1355G>T XP_016865075.1:p.Arg452Ile
NM_181523.3:c.1628G>T MANE Select NP_852664.1:p.Arg543Ile
NM_001242466.2:c.539G>T NP_001229395.1:p.Arg180Ile
NM_181504.4:c.818G>T NP_852556.2:p.Arg273Ile
NM_181524.2:c.728G>T NP_852665.1:p.Arg243Ile