Canonical Allele Identifier: CA444488542

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68292278A>C , CM000667.2:g.68292278A>C	GRCh38
NC_000005.9:g.67588106A>C , CM000667.1:g.67588106A>C	GRCh37
NC_000005.8:g.67623862A>C	NCBI36
NG_012849.2:g.81523A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_181523.3:c.936A>C MANE Select	NP_852664.1:p.Pro312=
ENST00000521381.6:c.936A>C MANE Select	ENSP00000428056.1:p.Pro312=
NM_181504.3:c.126A>C	NP_852556.2:p.Pro42=
NM_181504.4:c.126A>C	NP_852556.2:p.Pro42=
NM_181523.2:c.936A>C	NP_852664.1:p.Pro312=
NM_181524.1:c.36A>C	NP_852665.1:p.Pro12=
NM_181524.2:c.36A>C	NP_852665.1:p.Pro12=
ENST00000320694.12:c.36A>C	ENSP00000323512.8:p.Pro12=
ENST00000320694.13:c.36A>C	ENSP00000323512.8:p.Pro12=
ENST00000336483.10:c.126A>C	ENSP00000338554.5:p.Pro42=
ENST00000336483.9:c.126A>C	ENSP00000338554.5:p.Pro42=
ENST00000517643.2:c.936A>C	ENSP00000513333.1:p.Pro312=
ENST00000517698.5:c.107-823A>C	ENSP00000430424.1:n.107-823A>C
ENST00000517698.6:c.107-823A>C	ENSP00000430424.1:n.107-823A>C
ENST00000518292.1:n.183A>C
ENST00000518813.5:n.1479A>C
ENST00000521381.5:c.936A>C	ENSP00000428056.1:p.Pro312=
ENST00000521409.5:c.-70-823A>C	ENSP00000431058.1:n.-70-823A>C
ENST00000521657.5:c.936A>C	ENSP00000429277.1:p.Pro312=
ENST00000521657.6:c.936A>C	ENSP00000429277.1:p.Pro312=
ENST00000522084.5:c.126A>C	ENSP00000429766.1:p.Pro42=
ENST00000522084.6:c.126A>C	ENSP00000429766.2:p.Pro42=
ENST00000523807.5:c.126A>C	ENSP00000430126.1:p.Pro42=
ENST00000697457.1:c.861A>C	ENSP00000513315.1:p.Pro287=
ENST00000697458.1:c.936A>C	ENSP00000513316.1:p.Pro312=
ENST00000697460.1:c.411A>C	ENSP00000513318.1:p.Pro137=
ENST00000697461.1:c.936A>C	ENSP00000513319.1:p.Pro312=
ENST00000697462.1:c.126A>C	ENSP00000513320.1:p.Pro42=
ENST00000697464.1:c.126A>C	ENSP00000513322.1:p.Pro42=
ENST00000697465.1:c.-28A>C	ENSP00000513323.1:n.-28A>C
ENST00000697466.1:c.-53A>C	ENSP00000513324.1:n.-53A>C
ENST00000697556.1:c.843A>C	ENSP00000513334.1:p.Pro281=
XM_005248542.2:c.936A>C	XP_005248599.1:p.Pro312=
XM_005248542.3:c.936A>C	XP_005248599.1:p.Pro312=
XM_011543493.1:c.609A>C	XP_011541795.1:p.Pro203=
XM_011543493.3:c.609A>C	XP_011541795.1:p.Pro203=
XM_017009585.2:c.936A>C	XP_016865074.1:p.Pro312=
XM_017009586.1:c.663A>C	XP_016865075.1:p.Pro221=