Canonical Allele Identifier: CA3290036

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68274014G>C , CM000667.2:g.68274014G>C	GRCh38
NC_000005.9:g.67569842G>C , CM000667.1:g.67569842G>C	GRCh37
NC_000005.8:g.67605598G>C	NCBI36
NG_012849.2:g.63259G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_181523.3:c.502+1G>C MANE Select	NP_852664.1:n.502+1G>C
ENST00000521381.6:c.502+1G>C MANE Select	ENSP00000428056.1:n.502+1G>C
NM_181523.2:c.502+1G>C	NP_852664.1:n.502+1G>C
ENST00000517412.2:n.1559G>C
ENST00000517643.2:c.502+1G>C	ENSP00000513333.1:n.502+1G>C
ENST00000520675.1:c.208+1G>C	ENSP00000428566.1:n.208+1G>C
ENST00000521381.5:c.502+1G>C	ENSP00000428056.1:n.502+1G>C
ENST00000521657.5:c.502+1G>C	ENSP00000429277.1:n.502+1G>C
ENST00000521657.6:c.502+1G>C	ENSP00000429277.1:n.502+1G>C
ENST00000697457.1:c.427+532G>C	ENSP00000513315.1:n.427+532G>C
ENST00000697458.1:c.502+1G>C	ENSP00000513316.1:n.502+1G>C
ENST00000697460.1:c.-24+1G>C	ENSP00000513318.1:n.-24+1G>C
ENST00000697461.1:c.502+1G>C	ENSP00000513319.1:n.502+1G>C
ENST00000697556.1:c.409+1G>C	ENSP00000513334.1:n.409+1G>C
XM_005248542.2:c.502+1G>C	XP_005248599.1:n.502+1G>C
XM_005248542.3:c.502+1G>C	XP_005248599.1:n.502+1G>C
XM_011543493.1:c.175+1G>C	XP_011541795.1:n.175+1G>C
XM_011543493.3:c.175+1G>C	XP_011541795.1:n.175+1G>C
XM_017009585.2:c.502+1G>C	XP_016865074.1:n.502+1G>C
XM_017009586.1:c.229+1G>C	XP_016865075.1:n.229+1G>C