Canonical Allele Identifier: CA359882741

Gene: PIK3R1

Linked Data

• dbSNP Id: rs2112274786
• MyVariant Identifiers: chr5:g.67591022A>T (hg19) ; chr5:g.68295194A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295194A>T , CM000667.2:g.68295194A>T	GRCh38
NC_000005.9:g.67591022A>T , CM000667.1:g.67591022A>T	GRCh37
NC_000005.8:g.67626778A>T	NCBI36
NG_012849.2:g.84439A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.715A>T	ENSP00000323512.8:p.Ile239Phe
ENST00000336483.10:c.805A>T	ENSP00000338554.5:p.Ile269Phe
ENST00000517643.2:c.1615A>T	ENSP00000513333.1:p.Ile539Phe
ENST00000517698.6:c.*585A>T	ENSP00000430424.1:n.*585A>T
ENST00000521657.6:c.1615A>T	ENSP00000429277.1:p.Ile539Phe
ENST00000522084.6:c.805A>T	ENSP00000429766.2:p.Ile269Phe
ENST00000697457.1:c.1540A>T	ENSP00000513315.1:p.Ile514Phe
ENST00000697458.1:c.1615A>T	ENSP00000513316.1:p.Ile539Phe
ENST00000697460.1:c.1090A>T	ENSP00000513318.1:p.Ile364Phe
ENST00000697461.1:c.1615A>T	ENSP00000513319.1:p.Ile539Phe
ENST00000697462.1:c.805A>T	ENSP00000513320.1:p.Ile269Phe
ENST00000697463.1:n.1256A>T
ENST00000697464.1:c.*581A>T	ENSP00000513322.1:n.*581A>T
ENST00000697465.1:c.652A>T	ENSP00000513323.1:p.Ile218Phe
ENST00000697466.1:c.622A>T	ENSP00000513324.1:p.Ile208Phe
ENST00000697467.1:c.526A>T	ENSP00000513325.1:p.Ile176Phe
ENST00000697468.1:c.598A>T	ENSP00000513326.1:p.Ile200Phe
ENST00000697469.1:c.307A>T	ENSP00000513327.1:p.Ile103Phe
ENST00000697470.1:c.211A>T	ENSP00000513328.1:p.Ile71Phe
ENST00000697557.1:c.598A>T	ENSP00000513335.1:p.Ile200Phe
ENST00000521381.6:c.1615A>T MANE Select	ENSP00000428056.1:p.Ile539Phe
ENST00000320694.12:c.715A>T	ENSP00000323512.8:p.Ile239Phe
ENST00000336483.9:c.805A>T	ENSP00000338554.5:p.Ile269Phe
ENST00000517698.5:c.*585A>T	ENSP00000430424.1:n.*585A>T
ENST00000518813.5:n.2158A>T
ENST00000520550.1:n.1014A>T
ENST00000521381.5:c.1615A>T	ENSP00000428056.1:p.Ile539Phe
ENST00000521657.5:c.1615A>T	ENSP00000429277.1:p.Ile539Phe
ENST00000523872.1:c.526A>T	ENSP00000430098.1:p.Ile176Phe
NM_001242466.1:c.526A>T	NP_001229395.1:p.Ile176Phe
NM_181504.3:c.805A>T	NP_852556.2:p.Ile269Phe
NM_181523.2:c.1615A>T	NP_852664.1:p.Ile539Phe
NM_181524.1:c.715A>T	NP_852665.1:p.Ile239Phe
XM_005248542.2:c.1615A>T	XP_005248599.1:p.Ile539Phe
XM_011543493.1:c.1288A>T	XP_011541795.1:p.Ile430Phe
XM_005248542.3:c.1615A>T	XP_005248599.1:p.Ile539Phe
XM_011543493.3:c.1288A>T	XP_011541795.1:p.Ile430Phe
XM_017009585.2:c.1615A>T	XP_016865074.1:p.Ile539Phe
XM_017009586.1:c.1342A>T	XP_016865075.1:p.Ile448Phe
NM_181523.3:c.1615A>T MANE Select	NP_852664.1:p.Ile539Phe
NM_001242466.2:c.526A>T	NP_001229395.1:p.Ile176Phe
NM_181504.4:c.805A>T	NP_852556.2:p.Ile269Phe
NM_181524.2:c.715A>T	NP_852665.1:p.Ile239Phe