Canonical Allele Identifier: CA344798

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 60762
• ClinVar RCV Id: RCV000054533
• dbSNP Id: rs397514047
• MyVariant Identifiers: chr5:g.67590403G>A (hg19) ; chr5:g.68294575G>A (hg38)
• PubMed: PMID:23810378 ; PMID:24830046

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68294575G>A , CM000667.2:g.68294575G>A	GRCh38
NC_000005.9:g.67590403G>A , CM000667.1:g.67590403G>A	GRCh37
NC_000005.8:g.67626159G>A	NCBI36
NG_012849.2:g.83820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.565G>A	ENSP00000323512.8:p.Glu189Lys
ENST00000336483.10:c.655G>A	ENSP00000338554.5:p.Glu219Lys
ENST00000517643.2:c.1465G>A	ENSP00000513333.1:p.Glu489Lys
ENST00000517698.6:c.*435G>A	ENSP00000430424.1:n.*435G>A
ENST00000521657.6:c.1465G>A	ENSP00000429277.1:p.Glu489Lys
ENST00000522084.6:c.655G>A	ENSP00000429766.2:p.Glu219Lys
ENST00000697457.1:c.1390G>A	ENSP00000513315.1:p.Glu464Lys
ENST00000697458.1:c.1465G>A	ENSP00000513316.1:p.Glu489Lys
ENST00000697460.1:c.940G>A	ENSP00000513318.1:p.Glu314Lys
ENST00000697461.1:c.1465G>A	ENSP00000513319.1:p.Glu489Lys
ENST00000697462.1:c.655G>A	ENSP00000513320.1:p.Glu219Lys
ENST00000697463.1:n.1106G>A
ENST00000697464.1:c.*431G>A	ENSP00000513322.1:n.*431G>A
ENST00000697465.1:c.502G>A	ENSP00000513323.1:p.Glu168Lys
ENST00000697466.1:c.472G>A	ENSP00000513324.1:p.Glu158Lys
ENST00000697467.1:c.376G>A	ENSP00000513325.1:p.Glu126Lys
ENST00000697468.1:c.448G>A	ENSP00000513326.1:p.Glu150Lys
ENST00000697469.1:c.157G>A	ENSP00000513327.1:p.Glu53Lys
ENST00000697470.1:c.61G>A	ENSP00000513328.1:p.Glu21Lys
ENST00000697557.1:c.448G>A	ENSP00000513335.1:p.Glu150Lys
ENST00000521381.6:c.1465G>A MANE Select	ENSP00000428056.1:p.Glu489Lys
ENST00000320694.12:c.565G>A	ENSP00000323512.8:p.Glu189Lys
ENST00000336483.9:c.655G>A	ENSP00000338554.5:p.Glu219Lys
ENST00000517698.5:c.*435G>A	ENSP00000430424.1:n.*435G>A
ENST00000518813.5:n.2008G>A
ENST00000519025.5:c.484G>A	ENSP00000429156.1:p.Glu162Lys
ENST00000520550.1:n.864G>A
ENST00000521381.5:c.1465G>A	ENSP00000428056.1:p.Glu489Lys
ENST00000521409.5:c.376G>A	ENSP00000431058.1:p.Glu126Lys
ENST00000521657.5:c.1465G>A	ENSP00000429277.1:p.Glu489Lys
ENST00000523872.1:c.376G>A	ENSP00000430098.1:p.Glu126Lys
NM_001242466.1:c.376G>A	NP_001229395.1:p.Glu126Lys
NM_181504.3:c.655G>A	NP_852556.2:p.Glu219Lys
NM_181523.2:c.1465G>A	NP_852664.1:p.Glu489Lys
NM_181524.1:c.565G>A	NP_852665.1:p.Glu189Lys
XM_005248542.2:c.1465G>A	XP_005248599.1:p.Glu489Lys
XM_011543493.1:c.1138G>A	XP_011541795.1:p.Glu380Lys
XM_005248542.3:c.1465G>A	XP_005248599.1:p.Glu489Lys
XM_011543493.3:c.1138G>A	XP_011541795.1:p.Glu380Lys
XM_017009585.2:c.1465G>A	XP_016865074.1:p.Glu489Lys
XM_017009586.1:c.1192G>A	XP_016865075.1:p.Glu398Lys
NM_181523.3:c.1465G>A MANE Select	NP_852664.1:p.Glu489Lys
NM_001242466.2:c.376G>A	NP_001229395.1:p.Glu126Lys
NM_181504.4:c.655G>A	NP_852556.2:p.Glu219Lys
NM_181524.2:c.565G>A	NP_852665.1:p.Glu189Lys