Canonical Allele Identifier: CA3290348
Gene: PIK3R1 HGNC NCBI

Linked Data

ClinVar Variation Id: 532024
dbSNP Id: rs149905863
gnomAD v2: 5-67589197-A-G
gnomAD v3: 5-68293369-A-G
gnomAD v4: 5-68293369-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68293369A>G , CM000667.2:g.68293369A>G GRCh38
NC_000005.9:g.67589197A>G , CM000667.1:g.67589197A>G GRCh37
NC_000005.8:g.67624953A>G NCBI36
NG_012849.2:g.82614A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.285A>G ENSP00000323512.8:p.Pro95=
ENST00000336483.10:c.375A>G ENSP00000338554.5:p.Pro125=
ENST00000517643.2:c.1185A>G ENSP00000513333.1:p.Pro395=
ENST00000517698.6:c.*155A>G ENSP00000430424.1:n.*155A>G
ENST00000521657.6:c.1185A>G ENSP00000429277.1:p.Pro395=
ENST00000522084.6:c.375A>G ENSP00000429766.2:p.Pro125=
ENST00000697457.1:c.1110A>G ENSP00000513315.1:p.Pro370=
ENST00000697458.1:c.1185A>G ENSP00000513316.1:p.Pro395=
ENST00000697460.1:c.660A>G ENSP00000513318.1:p.Pro220=
ENST00000697461.1:c.1185A>G ENSP00000513319.1:p.Pro395=
ENST00000697462.1:c.375A>G ENSP00000513320.1:p.Pro125=
ENST00000697463.1:n.826A>G
ENST00000697464.1:c.*151A>G ENSP00000513322.1:n.*151A>G
ENST00000697465.1:c.222A>G ENSP00000513323.1:p.Pro74=
ENST00000697466.1:c.192A>G ENSP00000513324.1:p.Pro64=
ENST00000697467.1:c.96A>G ENSP00000513325.1:p.Pro32=
ENST00000697468.1:c.168A>G ENSP00000513326.1:p.Pro56=
ENST00000697556.1:c.1092A>G ENSP00000513334.1:p.Pro364=
ENST00000697557.1:c.168A>G ENSP00000513335.1:p.Pro56=
ENST00000521381.6:c.1185A>G MANE Select ENSP00000428056.1:p.Pro395=
ENST00000320694.12:c.285A>G ENSP00000323512.8:p.Pro95=
ENST00000336483.9:c.375A>G ENSP00000338554.5:p.Pro125=
ENST00000517698.5:c.*155A>G ENSP00000430424.1:n.*155A>G
ENST00000518292.1:n.535A>G
ENST00000518813.5:n.1728A>G
ENST00000519025.5:c.204A>G ENSP00000429156.1:p.Pro68=
ENST00000520550.1:n.584A>G
ENST00000521381.5:c.1185A>G ENSP00000428056.1:p.Pro395=
ENST00000521409.5:c.96A>G ENSP00000431058.1:p.Pro32=
ENST00000521657.5:c.1185A>G ENSP00000429277.1:p.Pro395=
ENST00000523872.1:c.96A>G ENSP00000430098.1:p.Pro32=
NM_001242466.1:c.96A>G NP_001229395.1:p.Pro32=
NM_181504.3:c.375A>G NP_852556.2:p.Pro125=
NM_181523.2:c.1185A>G NP_852664.1:p.Pro395=
NM_181524.1:c.285A>G NP_852665.1:p.Pro95=
XM_005248542.2:c.1185A>G XP_005248599.1:p.Pro395=
XM_011543493.1:c.858A>G XP_011541795.1:p.Pro286=
XM_005248542.3:c.1185A>G XP_005248599.1:p.Pro395=
XM_011543493.3:c.858A>G XP_011541795.1:p.Pro286=
XM_017009585.2:c.1185A>G XP_016865074.1:p.Pro395=
XM_017009586.1:c.912A>G XP_016865075.1:p.Pro304=
NM_181523.3:c.1185A>G MANE Select NP_852664.1:p.Pro395=
NM_001242466.2:c.96A>G NP_001229395.1:p.Pro32=
NM_181504.4:c.375A>G NP_852556.2:p.Pro125=
NM_181524.2:c.285A>G NP_852665.1:p.Pro95=