Canonical Allele Identifier: CA3290453

Gene: PIK3R1

Linked Data

• dbSNP Id: rs745656738
• ExAC: 5:67591010 A / G
• gnomAD v2: 5-67591010-A-G
• gnomAD v4: 5-68295182-A-G
• MyVariant Identifiers: chr5:g.67591010A>G (hg19) ; chr5:g.68295182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295182A>G , CM000667.2:g.68295182A>G	GRCh38
NC_000005.9:g.67591010A>G , CM000667.1:g.67591010A>G	GRCh37
NC_000005.8:g.67626766A>G	NCBI36
NG_012849.2:g.84427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.703A>G	ENSP00000323512.8:p.Ile235Val
ENST00000336483.10:c.793A>G	ENSP00000338554.5:p.Ile265Val
ENST00000517643.2:c.1603A>G	ENSP00000513333.1:p.Ile535Val
ENST00000517698.6:c.*573A>G	ENSP00000430424.1:n.*573A>G
ENST00000521657.6:c.1603A>G	ENSP00000429277.1:p.Ile535Val
ENST00000522084.6:c.793A>G	ENSP00000429766.2:p.Ile265Val
ENST00000697457.1:c.1528A>G	ENSP00000513315.1:p.Ile510Val
ENST00000697458.1:c.1603A>G	ENSP00000513316.1:p.Ile535Val
ENST00000697460.1:c.1078A>G	ENSP00000513318.1:p.Ile360Val
ENST00000697461.1:c.1603A>G	ENSP00000513319.1:p.Ile535Val
ENST00000697462.1:c.793A>G	ENSP00000513320.1:p.Ile265Val
ENST00000697463.1:n.1244A>G
ENST00000697464.1:c.*569A>G	ENSP00000513322.1:n.*569A>G
ENST00000697465.1:c.640A>G	ENSP00000513323.1:p.Ile214Val
ENST00000697466.1:c.610A>G	ENSP00000513324.1:p.Ile204Val
ENST00000697467.1:c.514A>G	ENSP00000513325.1:p.Ile172Val
ENST00000697468.1:c.586A>G	ENSP00000513326.1:p.Ile196Val
ENST00000697469.1:c.295A>G	ENSP00000513327.1:p.Ile99Val
ENST00000697470.1:c.199A>G	ENSP00000513328.1:p.Ile67Val
ENST00000697557.1:c.586A>G	ENSP00000513335.1:p.Ile196Val
ENST00000521381.6:c.1603A>G MANE Select	ENSP00000428056.1:p.Ile535Val
ENST00000320694.12:c.703A>G	ENSP00000323512.8:p.Ile235Val
ENST00000336483.9:c.793A>G	ENSP00000338554.5:p.Ile265Val
ENST00000517698.5:c.*573A>G	ENSP00000430424.1:n.*573A>G
ENST00000518813.5:n.2146A>G
ENST00000520550.1:n.1002A>G
ENST00000521381.5:c.1603A>G	ENSP00000428056.1:p.Ile535Val
ENST00000521657.5:c.1603A>G	ENSP00000429277.1:p.Ile535Val
ENST00000523872.1:c.514A>G	ENSP00000430098.1:p.Ile172Val
NM_001242466.1:c.514A>G	NP_001229395.1:p.Ile172Val
NM_181504.3:c.793A>G	NP_852556.2:p.Ile265Val
NM_181523.2:c.1603A>G	NP_852664.1:p.Ile535Val
NM_181524.1:c.703A>G	NP_852665.1:p.Ile235Val
XM_005248542.2:c.1603A>G	XP_005248599.1:p.Ile535Val
XM_011543493.1:c.1276A>G	XP_011541795.1:p.Ile426Val
XM_005248542.3:c.1603A>G	XP_005248599.1:p.Ile535Val
XM_011543493.3:c.1276A>G	XP_011541795.1:p.Ile426Val
XM_017009585.2:c.1603A>G	XP_016865074.1:p.Ile535Val
XM_017009586.1:c.1330A>G	XP_016865075.1:p.Ile444Val
NM_181523.3:c.1603A>G MANE Select	NP_852664.1:p.Ile535Val
NM_001242466.2:c.514A>G	NP_001229395.1:p.Ile172Val
NM_181504.4:c.793A>G	NP_852556.2:p.Ile265Val
NM_181524.2:c.703A>G	NP_852665.1:p.Ile235Val