Canonical Allele Identifier: CA359883007

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295257G>C , CM000667.2:g.68295257G>C	GRCh38
NC_000005.9:g.67591085G>C , CM000667.1:g.67591085G>C	GRCh37
NC_000005.8:g.67626841G>C	NCBI36
NG_012849.2:g.84502G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.778G>C	ENSP00000323512.8:p.Asp260His
ENST00000336483.10:c.868G>C	ENSP00000338554.5:p.Asp290His
ENST00000517643.2:c.1678G>C	ENSP00000513333.1:p.Asp560His
ENST00000517698.6:c.*648G>C	ENSP00000430424.1:n.*648G>C
ENST00000521657.6:c.1678G>C	ENSP00000429277.1:p.Asp560His
ENST00000522084.6:c.868G>C	ENSP00000429766.2:p.Asp290His
ENST00000697457.1:c.1603G>C	ENSP00000513315.1:p.Asp535His
ENST00000697458.1:c.1678G>C	ENSP00000513316.1:p.Asp560His
ENST00000697460.1:c.1153G>C	ENSP00000513318.1:p.Asp385His
ENST00000697461.1:c.1678G>C	ENSP00000513319.1:p.Asp560His
ENST00000697462.1:c.868G>C	ENSP00000513320.1:p.Asp290His
ENST00000697463.1:n.1319G>C
ENST00000697464.1:c.*644G>C	ENSP00000513322.1:n.*644G>C
ENST00000697465.1:c.715G>C	ENSP00000513323.1:p.Asp239His
ENST00000697466.1:c.685G>C	ENSP00000513324.1:p.Asp229His
ENST00000697467.1:c.589G>C	ENSP00000513325.1:p.Asp197His
ENST00000697468.1:c.661G>C	ENSP00000513326.1:p.Asp221His
ENST00000697469.1:c.370G>C	ENSP00000513327.1:p.Asp124His
ENST00000697470.1:c.274G>C	ENSP00000513328.1:p.Asp92His
ENST00000697557.1:c.661G>C	ENSP00000513335.1:p.Asp221His
ENST00000521381.6:c.1678G>C MANE Select	ENSP00000428056.1:p.Asp560His
ENST00000320694.12:c.778G>C	ENSP00000323512.8:p.Asp260His
ENST00000336483.9:c.868G>C	ENSP00000338554.5:p.Asp290His
ENST00000517698.5:c.*648G>C	ENSP00000430424.1:n.*648G>C
ENST00000518813.5:n.2221G>C
ENST00000520550.1:n.1077G>C
ENST00000521381.5:c.1678G>C	ENSP00000428056.1:p.Asp560His
ENST00000521657.5:c.1678G>C	ENSP00000429277.1:p.Asp560His
ENST00000523872.1:c.589G>C	ENSP00000430098.1:p.Asp197His
NM_001242466.1:c.589G>C	NP_001229395.1:p.Asp197His
NM_181504.3:c.868G>C	NP_852556.2:p.Asp290His
NM_181523.2:c.1678G>C	NP_852664.1:p.Asp560His
NM_181524.1:c.778G>C	NP_852665.1:p.Asp260His
XM_005248542.2:c.1678G>C	XP_005248599.1:p.Asp560His
XM_011543493.1:c.1351G>C	XP_011541795.1:p.Asp451His
XM_005248542.3:c.1678G>C	XP_005248599.1:p.Asp560His
XM_011543493.3:c.1351G>C	XP_011541795.1:p.Asp451His
XM_017009585.2:c.1678G>C	XP_016865074.1:p.Asp560His
XM_017009586.1:c.1405G>C	XP_016865075.1:p.Asp469His
NM_181523.3:c.1678G>C MANE Select	NP_852664.1:p.Asp560His
NM_001242466.2:c.589G>C	NP_001229395.1:p.Asp197His
NM_181504.4:c.868G>C	NP_852556.2:p.Asp290His
NM_181524.2:c.778G>C	NP_852665.1:p.Asp260His