Canonical Allele Identifier: CA444672835
Gene: PIK3R1 HGNC NCBI

Linked Data

dbSNP Id: rs2112277136
MyVariant Identifiers: chr5:g.67591141C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295313C>T , CM000667.2:g.68295313C>T GRCh38
NC_000005.9:g.67591141C>T , CM000667.1:g.67591141C>T GRCh37
NC_000005.8:g.67626897C>T NCBI36
NG_012849.2:g.84558C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320694.13:c.834C>T ENSP00000323512.8:p.Asp278=
ENST00000336483.10:c.924C>T ENSP00000338554.5:p.Asp308=
ENST00000517643.2:c.1734C>T ENSP00000513333.1:p.Asp578=
ENST00000517698.6:c.*704C>T ENSP00000430424.1:n.*704C>T
ENST00000521657.6:c.1734C>T ENSP00000429277.1:p.Asp578=
ENST00000522084.6:c.924C>T ENSP00000429766.2:p.Asp308=
ENST00000697457.1:c.1659C>T ENSP00000513315.1:p.Asp553=
ENST00000697458.1:c.1734C>T ENSP00000513316.1:p.Asp578=
ENST00000697460.1:c.1209C>T ENSP00000513318.1:p.Asp403=
ENST00000697461.1:c.1734C>T ENSP00000513319.1:p.Asp578=
ENST00000697462.1:c.924C>T ENSP00000513320.1:p.Asp308=
ENST00000697463.1:n.1375C>T
ENST00000697464.1:c.*700C>T ENSP00000513322.1:n.*700C>T
ENST00000697465.1:c.771C>T ENSP00000513323.1:p.Asp257=
ENST00000697466.1:c.741C>T ENSP00000513324.1:p.Asp247=
ENST00000697467.1:c.645C>T ENSP00000513325.1:p.Asp215=
ENST00000697468.1:c.717C>T ENSP00000513326.1:p.Asp239=
ENST00000697469.1:c.426C>T ENSP00000513327.1:p.Asp142=
ENST00000697470.1:c.330C>T ENSP00000513328.1:p.Asp110=
ENST00000697557.1:c.717C>T ENSP00000513335.1:p.Asp239=
ENST00000521381.6:c.1734C>T MANE Select ENSP00000428056.1:p.Asp578=
ENST00000320694.12:c.834C>T ENSP00000323512.8:p.Asp278=
ENST00000336483.9:c.924C>T ENSP00000338554.5:p.Asp308=
ENST00000517698.5:c.*704C>T ENSP00000430424.1:n.*704C>T
ENST00000518813.5:n.2277C>T
ENST00000520550.1:n.1133C>T
ENST00000521381.5:c.1734C>T ENSP00000428056.1:p.Asp578=
ENST00000521657.5:c.1734C>T ENSP00000429277.1:p.Asp578=
ENST00000523872.1:c.645C>T ENSP00000430098.1:p.Asp215=
NM_001242466.1:c.645C>T NP_001229395.1:p.Asp215=
NM_181504.3:c.924C>T NP_852556.2:p.Asp308=
NM_181523.2:c.1734C>T NP_852664.1:p.Asp578=
NM_181524.1:c.834C>T NP_852665.1:p.Asp278=
XM_005248542.2:c.1734C>T XP_005248599.1:p.Asp578=
XM_011543493.1:c.1407C>T XP_011541795.1:p.Asp469=
XM_005248542.3:c.1734C>T XP_005248599.1:p.Asp578=
XM_011543493.3:c.1407C>T XP_011541795.1:p.Asp469=
XM_017009585.2:c.1734C>T XP_016865074.1:p.Asp578=
XM_017009586.1:c.1461C>T XP_016865075.1:p.Asp487=
NM_181523.3:c.1734C>T MANE Select NP_852664.1:p.Asp578=
NM_001242466.2:c.645C>T NP_001229395.1:p.Asp215=
NM_181504.4:c.924C>T NP_852556.2:p.Asp308=
NM_181524.2:c.834C>T NP_852665.1:p.Asp278=