Canonical Allele Identifier: CA3290452

Gene: PIK3R1

Linked Data

• dbSNP Id: rs778058990
• ExAC: 5:67590998 T / C
• gnomAD v2: 5-67590998-T-C
• gnomAD v3: 5-68295170-T-C
• gnomAD v4: 5-68295170-T-C
• COSMIC: COSM6171579 ; COSM6171580 ; COSM6171581
• MyVariant Identifiers: chr5:g.67590998T>C (hg19) ; chr5:g.68295170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295170T>C , CM000667.2:g.68295170T>C	GRCh38
NC_000005.9:g.67590998T>C , CM000667.1:g.67590998T>C	GRCh37
NC_000005.8:g.67626754T>C	NCBI36
NG_012849.2:g.84415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.691T>C	ENSP00000323512.8:p.Leu231=
ENST00000336483.10:c.781T>C	ENSP00000338554.5:p.Leu261=
ENST00000517643.2:c.1591T>C	ENSP00000513333.1:p.Leu531=
ENST00000517698.6:c.*561T>C	ENSP00000430424.1:n.*561T>C
ENST00000521657.6:c.1591T>C	ENSP00000429277.1:p.Leu531=
ENST00000522084.6:c.781T>C	ENSP00000429766.2:p.Leu261=
ENST00000697457.1:c.1516T>C	ENSP00000513315.1:p.Leu506=
ENST00000697458.1:c.1591T>C	ENSP00000513316.1:p.Leu531=
ENST00000697460.1:c.1066T>C	ENSP00000513318.1:p.Leu356=
ENST00000697461.1:c.1591T>C	ENSP00000513319.1:p.Leu531=
ENST00000697462.1:c.781T>C	ENSP00000513320.1:p.Leu261=
ENST00000697463.1:n.1232T>C
ENST00000697464.1:c.*557T>C	ENSP00000513322.1:n.*557T>C
ENST00000697465.1:c.628T>C	ENSP00000513323.1:p.Leu210=
ENST00000697466.1:c.598T>C	ENSP00000513324.1:p.Leu200=
ENST00000697467.1:c.502T>C	ENSP00000513325.1:p.Leu168=
ENST00000697468.1:c.574T>C	ENSP00000513326.1:p.Leu192=
ENST00000697469.1:c.283T>C	ENSP00000513327.1:p.Leu95=
ENST00000697470.1:c.187T>C	ENSP00000513328.1:p.Leu63=
ENST00000697557.1:c.574T>C	ENSP00000513335.1:p.Leu192=
ENST00000521381.6:c.1591T>C MANE Select	ENSP00000428056.1:p.Leu531=
ENST00000320694.12:c.691T>C	ENSP00000323512.8:p.Leu231=
ENST00000336483.9:c.781T>C	ENSP00000338554.5:p.Leu261=
ENST00000517698.5:c.*561T>C	ENSP00000430424.1:n.*561T>C
ENST00000518813.5:n.2134T>C
ENST00000520550.1:n.990T>C
ENST00000521381.5:c.1591T>C	ENSP00000428056.1:p.Leu531=
ENST00000521657.5:c.1591T>C	ENSP00000429277.1:p.Leu531=
ENST00000523872.1:c.502T>C	ENSP00000430098.1:p.Leu168=
NM_001242466.1:c.502T>C	NP_001229395.1:p.Leu168=
NM_181504.3:c.781T>C	NP_852556.2:p.Leu261=
NM_181523.2:c.1591T>C	NP_852664.1:p.Leu531=
NM_181524.1:c.691T>C	NP_852665.1:p.Leu231=
XM_005248542.2:c.1591T>C	XP_005248599.1:p.Leu531=
XM_011543493.1:c.1264T>C	XP_011541795.1:p.Leu422=
XM_005248542.3:c.1591T>C	XP_005248599.1:p.Leu531=
XM_011543493.3:c.1264T>C	XP_011541795.1:p.Leu422=
XM_017009585.2:c.1591T>C	XP_016865074.1:p.Leu531=
XM_017009586.1:c.1318T>C	XP_016865075.1:p.Leu440=
NM_181523.3:c.1591T>C MANE Select	NP_852664.1:p.Leu531=
NM_001242466.2:c.502T>C	NP_001229395.1:p.Leu168=
NM_181504.4:c.781T>C	NP_852556.2:p.Leu261=
NM_181524.2:c.691T>C	NP_852665.1:p.Leu231=