Canonical Allele Identifier: CA359883112

Gene: PIK3R1

Linked Data

• MyVariant Identifiers: chr5:g.67591130A>G (hg19) ; chr5:g.68295302A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295302A>G , CM000667.2:g.68295302A>G	GRCh38
NC_000005.9:g.67591130A>G , CM000667.1:g.67591130A>G	GRCh37
NC_000005.8:g.67626886A>G	NCBI36
NG_012849.2:g.84547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.823A>G	ENSP00000323512.8:p.Lys275Glu
ENST00000336483.10:c.913A>G	ENSP00000338554.5:p.Lys305Glu
ENST00000517643.2:c.1723A>G	ENSP00000513333.1:p.Lys575Glu
ENST00000517698.6:c.*693A>G	ENSP00000430424.1:n.*693A>G
ENST00000521657.6:c.1723A>G	ENSP00000429277.1:p.Lys575Glu
ENST00000522084.6:c.913A>G	ENSP00000429766.2:p.Lys305Glu
ENST00000697457.1:c.1648A>G	ENSP00000513315.1:p.Lys550Glu
ENST00000697458.1:c.1723A>G	ENSP00000513316.1:p.Lys575Glu
ENST00000697460.1:c.1198A>G	ENSP00000513318.1:p.Lys400Glu
ENST00000697461.1:c.1723A>G	ENSP00000513319.1:p.Lys575Glu
ENST00000697462.1:c.913A>G	ENSP00000513320.1:p.Lys305Glu
ENST00000697463.1:n.1364A>G
ENST00000697464.1:c.*689A>G	ENSP00000513322.1:n.*689A>G
ENST00000697465.1:c.760A>G	ENSP00000513323.1:p.Lys254Glu
ENST00000697466.1:c.730A>G	ENSP00000513324.1:p.Lys244Glu
ENST00000697467.1:c.634A>G	ENSP00000513325.1:p.Lys212Glu
ENST00000697468.1:c.706A>G	ENSP00000513326.1:p.Lys236Glu
ENST00000697469.1:c.415A>G	ENSP00000513327.1:p.Lys139Glu
ENST00000697470.1:c.319A>G	ENSP00000513328.1:p.Lys107Glu
ENST00000697557.1:c.706A>G	ENSP00000513335.1:p.Lys236Glu
ENST00000521381.6:c.1723A>G MANE Select	ENSP00000428056.1:p.Lys575Glu
ENST00000320694.12:c.823A>G	ENSP00000323512.8:p.Lys275Glu
ENST00000336483.9:c.913A>G	ENSP00000338554.5:p.Lys305Glu
ENST00000517698.5:c.*693A>G	ENSP00000430424.1:n.*693A>G
ENST00000518813.5:n.2266A>G
ENST00000520550.1:n.1122A>G
ENST00000521381.5:c.1723A>G	ENSP00000428056.1:p.Lys575Glu
ENST00000521657.5:c.1723A>G	ENSP00000429277.1:p.Lys575Glu
ENST00000523872.1:c.634A>G	ENSP00000430098.1:p.Lys212Glu
NM_001242466.1:c.634A>G	NP_001229395.1:p.Lys212Glu
NM_181504.3:c.913A>G	NP_852556.2:p.Lys305Glu
NM_181523.2:c.1723A>G	NP_852664.1:p.Lys575Glu
NM_181524.1:c.823A>G	NP_852665.1:p.Lys275Glu
XM_005248542.2:c.1723A>G	XP_005248599.1:p.Lys575Glu
XM_011543493.1:c.1396A>G	XP_011541795.1:p.Lys466Glu
XM_005248542.3:c.1723A>G	XP_005248599.1:p.Lys575Glu
XM_011543493.3:c.1396A>G	XP_011541795.1:p.Lys466Glu
XM_017009585.2:c.1723A>G	XP_016865074.1:p.Lys575Glu
XM_017009586.1:c.1450A>G	XP_016865075.1:p.Lys484Glu
NM_181523.3:c.1723A>G MANE Select	NP_852664.1:p.Lys575Glu
NM_001242466.2:c.634A>G	NP_001229395.1:p.Lys212Glu
NM_181504.4:c.913A>G	NP_852556.2:p.Lys305Glu
NM_181524.2:c.823A>G	NP_852665.1:p.Lys275Glu