Canonical Allele Identifier: CA813394846
Gene: PIK3R1 HGNC NCBI

Linked Data

dbSNP Id: rs202176041
gnomAD v3: 5-68295142-C-A
gnomAD v4: 5-68295142-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295142C>A , CM000667.2:g.68295142C>A GRCh38
NC_000005.9:g.67590970C>A , CM000667.1:g.67590970C>A GRCh37
NC_000005.8:g.67626726C>A NCBI36
NG_012849.2:g.84387C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.669-6C>A ENSP00000323512.8:n.669-6C>A
ENST00000336483.10:c.759-6C>A ENSP00000338554.5:n.759-6C>A
ENST00000517643.2:c.1569-6C>A ENSP00000513333.1:n.1569-6C>A
ENST00000517698.6:c.*539-6C>A ENSP00000430424.1:n.*539-6C>A
ENST00000521657.6:c.1569-6C>A ENSP00000429277.1:n.1569-6C>A
ENST00000522084.6:c.759-6C>A ENSP00000429766.2:n.759-6C>A
ENST00000697457.1:c.1494-6C>A ENSP00000513315.1:n.1494-6C>A
ENST00000697458.1:c.1569-6C>A ENSP00000513316.1:n.1569-6C>A
ENST00000697460.1:c.1044-6C>A ENSP00000513318.1:n.1044-6C>A
ENST00000697461.1:c.1569-6C>A ENSP00000513319.1:n.1569-6C>A
ENST00000697462.1:c.759-6C>A ENSP00000513320.1:n.759-6C>A
ENST00000697463.1:n.1210-6C>A
ENST00000697464.1:c.*535-6C>A ENSP00000513322.1:n.*535-6C>A
ENST00000697465.1:c.606-6C>A ENSP00000513323.1:n.606-6C>A
ENST00000697466.1:c.576-6C>A ENSP00000513324.1:n.576-6C>A
ENST00000697467.1:c.480-6C>A ENSP00000513325.1:n.480-6C>A
ENST00000697468.1:c.552-6C>A ENSP00000513326.1:n.552-6C>A
ENST00000697469.1:c.261-6C>A ENSP00000513327.1:n.261-6C>A
ENST00000697470.1:c.165-6C>A ENSP00000513328.1:n.165-6C>A
ENST00000697557.1:c.552-6C>A ENSP00000513335.1:n.552-6C>A
ENST00000521381.6:c.1569-6C>A MANE Select ENSP00000428056.1:n.1569-6C>A
ENST00000320694.12:c.669-6C>A ENSP00000323512.8:n.669-6C>A
ENST00000336483.9:c.759-6C>A ENSP00000338554.5:n.759-6C>A
ENST00000517698.5:c.*539-6C>A ENSP00000430424.1:n.*539-6C>A
ENST00000518813.5:n.2112-6C>A
ENST00000520550.1:n.968-6C>A
ENST00000521381.5:c.1569-6C>A ENSP00000428056.1:n.1569-6C>A
ENST00000521657.5:c.1569-6C>A ENSP00000429277.1:n.1569-6C>A
ENST00000523872.1:c.480-6C>A ENSP00000430098.1:n.480-6C>A
NM_001242466.1:c.480-6C>A NP_001229395.1:n.480-6C>A
NM_181504.3:c.759-6C>A NP_852556.2:n.759-6C>A
NM_181523.2:c.1569-6C>A NP_852664.1:n.1569-6C>A
NM_181524.1:c.669-6C>A NP_852665.1:n.669-6C>A
XM_005248542.2:c.1569-6C>A XP_005248599.1:n.1569-6C>A
XM_011543493.1:c.1242-6C>A XP_011541795.1:n.1242-6C>A
XM_005248542.3:c.1569-6C>A XP_005248599.1:n.1569-6C>A
XM_011543493.3:c.1242-6C>A XP_011541795.1:n.1242-6C>A
XM_017009585.2:c.1569-6C>A XP_016865074.1:n.1569-6C>A
XM_017009586.1:c.1296-6C>A XP_016865075.1:n.1296-6C>A
NM_181523.3:c.1569-6C>A MANE Select NP_852664.1:n.1569-6C>A
NM_001242466.2:c.480-6C>A NP_001229395.1:n.480-6C>A
NM_181504.4:c.759-6C>A NP_852556.2:n.759-6C>A
NM_181524.2:c.669-6C>A NP_852665.1:n.669-6C>A