Canonical Allele Identifier: CA359882432
Gene: PIK3R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295152A>G , CM000667.2:g.68295152A>G GRCh38
NC_000005.9:g.67590980A>G , CM000667.1:g.67590980A>G GRCh37
NC_000005.8:g.67626736A>G NCBI36
NG_012849.2:g.84397A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.673A>G ENSP00000323512.8:p.Met225Val
ENST00000336483.10:c.763A>G ENSP00000338554.5:p.Met255Val
ENST00000517643.2:c.1573A>G ENSP00000513333.1:p.Met525Val
ENST00000517698.6:c.*543A>G ENSP00000430424.1:n.*543A>G
ENST00000521657.6:c.1573A>G ENSP00000429277.1:p.Met525Val
ENST00000522084.6:c.763A>G ENSP00000429766.2:p.Met255Val
ENST00000697457.1:c.1498A>G ENSP00000513315.1:p.Met500Val
ENST00000697458.1:c.1573A>G ENSP00000513316.1:p.Met525Val
ENST00000697460.1:c.1048A>G ENSP00000513318.1:p.Met350Val
ENST00000697461.1:c.1573A>G ENSP00000513319.1:p.Met525Val
ENST00000697462.1:c.763A>G ENSP00000513320.1:p.Met255Val
ENST00000697463.1:n.1214A>G
ENST00000697464.1:c.*539A>G ENSP00000513322.1:n.*539A>G
ENST00000697465.1:c.610A>G ENSP00000513323.1:p.Met204Val
ENST00000697466.1:c.580A>G ENSP00000513324.1:p.Met194Val
ENST00000697467.1:c.484A>G ENSP00000513325.1:p.Met162Val
ENST00000697468.1:c.556A>G ENSP00000513326.1:p.Met186Val
ENST00000697469.1:c.265A>G ENSP00000513327.1:p.Met89Val
ENST00000697470.1:c.169A>G ENSP00000513328.1:p.Met57Val
ENST00000697557.1:c.556A>G ENSP00000513335.1:p.Met186Val
ENST00000521381.6:c.1573A>G MANE Select ENSP00000428056.1:p.Met525Val
ENST00000320694.12:c.673A>G ENSP00000323512.8:p.Met225Val
ENST00000336483.9:c.763A>G ENSP00000338554.5:p.Met255Val
ENST00000517698.5:c.*543A>G ENSP00000430424.1:n.*543A>G
ENST00000518813.5:n.2116A>G
ENST00000520550.1:n.972A>G
ENST00000521381.5:c.1573A>G ENSP00000428056.1:p.Met525Val
ENST00000521657.5:c.1573A>G ENSP00000429277.1:p.Met525Val
ENST00000523872.1:c.484A>G ENSP00000430098.1:p.Met162Val
NM_001242466.1:c.484A>G NP_001229395.1:p.Met162Val
NM_181504.3:c.763A>G NP_852556.2:p.Met255Val
NM_181523.2:c.1573A>G NP_852664.1:p.Met525Val
NM_181524.1:c.673A>G NP_852665.1:p.Met225Val
XM_005248542.2:c.1573A>G XP_005248599.1:p.Met525Val
XM_011543493.1:c.1246A>G XP_011541795.1:p.Met416Val
XM_005248542.3:c.1573A>G XP_005248599.1:p.Met525Val
XM_011543493.3:c.1246A>G XP_011541795.1:p.Met416Val
XM_017009585.2:c.1573A>G XP_016865074.1:p.Met525Val
XM_017009586.1:c.1300A>G XP_016865075.1:p.Met434Val
NM_181523.3:c.1573A>G MANE Select NP_852664.1:p.Met525Val
NM_001242466.2:c.484A>G NP_001229395.1:p.Met162Val
NM_181504.4:c.763A>G NP_852556.2:p.Met255Val
NM_181524.2:c.673A>G NP_852665.1:p.Met225Val