Canonical Allele Identifier: CA3290219

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68290746G>T , CM000667.2:g.68290746G>T	GRCh38
NC_000005.9:g.67586574G>T , CM000667.1:g.67586574G>T	GRCh37
NC_000005.8:g.67622330G>T	NCBI36
NG_012849.2:g.79991G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181523.3:c.917-1513G>T MANE Select	NP_852664.1:n.917-1513G>T
ENST00000521381.6:c.917-1513G>T MANE Select	ENSP00000428056.1:n.917-1513G>T
NM_181504.3:c.18G>T	NP_852556.2:p.Trp6Cys
NM_181504.4:c.18G>T	NP_852556.2:p.Trp6Cys
NM_181523.2:c.917-1513G>T	NP_852664.1:n.917-1513G>T
NM_181524.1:c.17-1513G>T	NP_852665.1:n.17-1513G>T
NM_181524.2:c.17-1513G>T	NP_852665.1:n.17-1513G>T
ENST00000320694.12:c.17-1513G>T	ENSP00000323512.8:n.17-1513G>T
ENST00000320694.13:c.17-1513G>T	ENSP00000323512.8:n.17-1513G>T
ENST00000336483.10:c.18G>T	ENSP00000338554.5:p.Trp6Cys
ENST00000336483.9:c.18G>T	ENSP00000338554.5:p.Trp6Cys
ENST00000517643.2:c.917-1513G>T	ENSP00000513333.1:n.917-1513G>T
ENST00000517698.5:c.18G>T	ENSP00000430424.1:p.Trp6Cys
ENST00000517698.6:c.18G>T	ENSP00000430424.1:p.Trp6Cys
ENST00000518292.1:n.75G>T
ENST00000521381.5:c.917-1513G>T	ENSP00000428056.1:n.917-1513G>T
ENST00000521409.5:c.-71+1995G>T	ENSP00000431058.1:n.-71+1995G>T
ENST00000521657.5:c.917-1513G>T	ENSP00000429277.1:n.917-1513G>T
ENST00000521657.6:c.917-1513G>T	ENSP00000429277.1:n.917-1513G>T
ENST00000522084.5:c.107-1513G>T	ENSP00000429766.1:n.107-1513G>T
ENST00000522084.6:c.107-1513G>T	ENSP00000429766.2:n.107-1513G>T
ENST00000523807.5:c.107-1513G>T	ENSP00000430126.1:n.107-1513G>T
ENST00000697457.1:c.842-1513G>T	ENSP00000513315.1:n.842-1513G>T
ENST00000697458.1:c.917-1513G>T	ENSP00000513316.1:n.917-1513G>T
ENST00000697460.1:c.392-1513G>T	ENSP00000513318.1:n.392-1513G>T
ENST00000697461.1:c.917-1513G>T	ENSP00000513319.1:n.917-1513G>T
ENST00000697462.1:c.18G>T	ENSP00000513320.1:p.Trp6Cys
ENST00000697464.1:c.18G>T	ENSP00000513322.1:p.Trp6Cys
ENST00000697556.1:c.824-1513G>T	ENSP00000513334.1:n.824-1513G>T
XM_005248542.2:c.917-1513G>T	XP_005248599.1:n.917-1513G>T
XM_005248542.3:c.917-1513G>T	XP_005248599.1:n.917-1513G>T
XM_011543493.1:c.590-1513G>T	XP_011541795.1:n.590-1513G>T
XM_011543493.3:c.590-1513G>T	XP_011541795.1:n.590-1513G>T
XM_017009585.2:c.917-1513G>T	XP_016865074.1:n.917-1513G>T
XM_017009586.1:c.644-1513G>T	XP_016865075.1:n.644-1513G>T