Canonical Allele Identifier: CA359883123

Gene: PIK3R1

Linked Data

• gnomAD v4: 5-68295308-A-G
• MyVariant Identifiers: chr5:g.67591136A>G (hg19) ; chr5:g.68295308A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295308A>G , CM000667.2:g.68295308A>G	GRCh38
NC_000005.9:g.67591136A>G , CM000667.1:g.67591136A>G	GRCh37
NC_000005.8:g.67626892A>G	NCBI36
NG_012849.2:g.84553A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320694.13:c.829A>G	ENSP00000323512.8:p.Arg277Gly
ENST00000336483.10:c.919A>G	ENSP00000338554.5:p.Arg307Gly
ENST00000517643.2:c.1729A>G	ENSP00000513333.1:p.Arg577Gly
ENST00000517698.6:c.*699A>G	ENSP00000430424.1:n.*699A>G
ENST00000521657.6:c.1729A>G	ENSP00000429277.1:p.Arg577Gly
ENST00000522084.6:c.919A>G	ENSP00000429766.2:p.Arg307Gly
ENST00000697457.1:c.1654A>G	ENSP00000513315.1:p.Arg552Gly
ENST00000697458.1:c.1729A>G	ENSP00000513316.1:p.Arg577Gly
ENST00000697460.1:c.1204A>G	ENSP00000513318.1:p.Arg402Gly
ENST00000697461.1:c.1729A>G	ENSP00000513319.1:p.Arg577Gly
ENST00000697462.1:c.919A>G	ENSP00000513320.1:p.Arg307Gly
ENST00000697463.1:n.1370A>G
ENST00000697464.1:c.*695A>G	ENSP00000513322.1:n.*695A>G
ENST00000697465.1:c.766A>G	ENSP00000513323.1:p.Arg256Gly
ENST00000697466.1:c.736A>G	ENSP00000513324.1:p.Arg246Gly
ENST00000697467.1:c.640A>G	ENSP00000513325.1:p.Arg214Gly
ENST00000697468.1:c.712A>G	ENSP00000513326.1:p.Arg238Gly
ENST00000697469.1:c.421A>G	ENSP00000513327.1:p.Arg141Gly
ENST00000697470.1:c.325A>G	ENSP00000513328.1:p.Arg109Gly
ENST00000697557.1:c.712A>G	ENSP00000513335.1:p.Arg238Gly
ENST00000521381.6:c.1729A>G MANE Select	ENSP00000428056.1:p.Arg577Gly
ENST00000320694.12:c.829A>G	ENSP00000323512.8:p.Arg277Gly
ENST00000336483.9:c.919A>G	ENSP00000338554.5:p.Arg307Gly
ENST00000517698.5:c.*699A>G	ENSP00000430424.1:n.*699A>G
ENST00000518813.5:n.2272A>G
ENST00000520550.1:n.1128A>G
ENST00000521381.5:c.1729A>G	ENSP00000428056.1:p.Arg577Gly
ENST00000521657.5:c.1729A>G	ENSP00000429277.1:p.Arg577Gly
ENST00000523872.1:c.640A>G	ENSP00000430098.1:p.Arg214Gly
NM_001242466.1:c.640A>G	NP_001229395.1:p.Arg214Gly
NM_181504.3:c.919A>G	NP_852556.2:p.Arg307Gly
NM_181523.2:c.1729A>G	NP_852664.1:p.Arg577Gly
NM_181524.1:c.829A>G	NP_852665.1:p.Arg277Gly
XM_005248542.2:c.1729A>G	XP_005248599.1:p.Arg577Gly
XM_011543493.1:c.1402A>G	XP_011541795.1:p.Arg468Gly
XM_005248542.3:c.1729A>G	XP_005248599.1:p.Arg577Gly
XM_011543493.3:c.1402A>G	XP_011541795.1:p.Arg468Gly
XM_017009585.2:c.1729A>G	XP_016865074.1:p.Arg577Gly
XM_017009586.1:c.1456A>G	XP_016865075.1:p.Arg486Gly
NM_181523.3:c.1729A>G MANE Select	NP_852664.1:p.Arg577Gly
NM_001242466.2:c.640A>G	NP_001229395.1:p.Arg214Gly
NM_181504.4:c.919A>G	NP_852556.2:p.Arg307Gly
NM_181524.2:c.829A>G	NP_852665.1:p.Arg277Gly