Canonical Allele Identifier: CA359883039
Gene: PIK3R1 HGNC NCBI

Linked Data

dbSNP Id: rs2112276277

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295270A>T , CM000667.2:g.68295270A>T GRCh38
NC_000005.9:g.67591098A>T , CM000667.1:g.67591098A>T GRCh37
NC_000005.8:g.67626854A>T NCBI36
NG_012849.2:g.84515A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.791A>T ENSP00000323512.8:p.Asn264Ile
ENST00000336483.10:c.881A>T ENSP00000338554.5:p.Asn294Ile
ENST00000517643.2:c.1691A>T ENSP00000513333.1:p.Asn564Ile
ENST00000517698.6:c.*661A>T ENSP00000430424.1:n.*661A>T
ENST00000521657.6:c.1691A>T ENSP00000429277.1:p.Asn564Ile
ENST00000522084.6:c.881A>T ENSP00000429766.2:p.Asn294Ile
ENST00000697457.1:c.1616A>T ENSP00000513315.1:p.Asn539Ile
ENST00000697458.1:c.1691A>T ENSP00000513316.1:p.Asn564Ile
ENST00000697460.1:c.1166A>T ENSP00000513318.1:p.Asn389Ile
ENST00000697461.1:c.1691A>T ENSP00000513319.1:p.Asn564Ile
ENST00000697462.1:c.881A>T ENSP00000513320.1:p.Asn294Ile
ENST00000697463.1:n.1332A>T
ENST00000697464.1:c.*657A>T ENSP00000513322.1:n.*657A>T
ENST00000697465.1:c.728A>T ENSP00000513323.1:p.Asn243Ile
ENST00000697466.1:c.698A>T ENSP00000513324.1:p.Asn233Ile
ENST00000697467.1:c.602A>T ENSP00000513325.1:p.Asn201Ile
ENST00000697468.1:c.674A>T ENSP00000513326.1:p.Asn225Ile
ENST00000697469.1:c.383A>T ENSP00000513327.1:p.Asn128Ile
ENST00000697470.1:c.287A>T ENSP00000513328.1:p.Asn96Ile
ENST00000697557.1:c.674A>T ENSP00000513335.1:p.Asn225Ile
ENST00000521381.6:c.1691A>T MANE Select ENSP00000428056.1:p.Asn564Ile
ENST00000320694.12:c.791A>T ENSP00000323512.8:p.Asn264Ile
ENST00000336483.9:c.881A>T ENSP00000338554.5:p.Asn294Ile
ENST00000517698.5:c.*661A>T ENSP00000430424.1:n.*661A>T
ENST00000518813.5:n.2234A>T
ENST00000520550.1:n.1090A>T
ENST00000521381.5:c.1691A>T ENSP00000428056.1:p.Asn564Ile
ENST00000521657.5:c.1691A>T ENSP00000429277.1:p.Asn564Ile
ENST00000523872.1:c.602A>T ENSP00000430098.1:p.Asn201Ile
NM_001242466.1:c.602A>T NP_001229395.1:p.Asn201Ile
NM_181504.3:c.881A>T NP_852556.2:p.Asn294Ile
NM_181523.2:c.1691A>T NP_852664.1:p.Asn564Ile
NM_181524.1:c.791A>T NP_852665.1:p.Asn264Ile
XM_005248542.2:c.1691A>T XP_005248599.1:p.Asn564Ile
XM_011543493.1:c.1364A>T XP_011541795.1:p.Asn455Ile
XM_005248542.3:c.1691A>T XP_005248599.1:p.Asn564Ile
XM_011543493.3:c.1364A>T XP_011541795.1:p.Asn455Ile
XM_017009585.2:c.1691A>T XP_016865074.1:p.Asn564Ile
XM_017009586.1:c.1418A>T XP_016865075.1:p.Asn473Ile
NM_181523.3:c.1691A>T MANE Select NP_852664.1:p.Asn564Ile
NM_001242466.2:c.602A>T NP_001229395.1:p.Asn201Ile
NM_181504.4:c.881A>T NP_852556.2:p.Asn294Ile
NM_181524.2:c.791A>T NP_852665.1:p.Asn264Ile