Canonical Allele Identifier: CA16602527

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 376065
• ClinVar RCV Id: RCV000422432 ; RCV000421788 ; RCV000429204 ; RCV000435812 ; RCV000439435
• dbSNP Id: rs1057519757
• COSMIC: COSM3410365 ; COSM3410366 ; COSM3410367
• MyVariant Identifiers: chr5:g.67589138G>C (hg19) ; chr5:g.68293310G>C (hg38)
• PubMed: PMID:19962457 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68293310G>C , CM000667.2:g.68293310G>C	GRCh38
NC_000005.9:g.67589138G>C , CM000667.1:g.67589138G>C	GRCh37
NC_000005.8:g.67624894G>C	NCBI36
NG_012849.2:g.82555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.226G>C	ENSP00000323512.8:p.Gly76Arg
ENST00000336483.10:c.316G>C	ENSP00000338554.5:p.Gly106Arg
ENST00000517643.2:c.1126G>C	ENSP00000513333.1:p.Gly376Arg
ENST00000517698.6:c.*96G>C	ENSP00000430424.1:n.*96G>C
ENST00000521657.6:c.1126G>C	ENSP00000429277.1:p.Gly376Arg
ENST00000522084.6:c.316G>C	ENSP00000429766.2:p.Gly106Arg
ENST00000697457.1:c.1051G>C	ENSP00000513315.1:p.Gly351Arg
ENST00000697458.1:c.1126G>C	ENSP00000513316.1:p.Gly376Arg
ENST00000697460.1:c.601G>C	ENSP00000513318.1:p.Gly201Arg
ENST00000697461.1:c.1126G>C	ENSP00000513319.1:p.Gly376Arg
ENST00000697462.1:c.316G>C	ENSP00000513320.1:p.Gly106Arg
ENST00000697463.1:n.767G>C
ENST00000697464.1:c.*92G>C	ENSP00000513322.1:n.*92G>C
ENST00000697465.1:c.163G>C	ENSP00000513323.1:p.Gly55Arg
ENST00000697466.1:c.133G>C	ENSP00000513324.1:p.Gly45Arg
ENST00000697467.1:c.37G>C	ENSP00000513325.1:p.Gly13Arg
ENST00000697468.1:c.109G>C	ENSP00000513326.1:p.Gly37Arg
ENST00000697556.1:c.1033G>C	ENSP00000513334.1:p.Gly345Arg
ENST00000697557.1:c.109G>C	ENSP00000513335.1:p.Gly37Arg
ENST00000521381.6:c.1126G>C MANE Select	ENSP00000428056.1:p.Gly376Arg
ENST00000320694.12:c.226G>C	ENSP00000323512.8:p.Gly76Arg
ENST00000336483.9:c.316G>C	ENSP00000338554.5:p.Gly106Arg
ENST00000517698.5:c.*96G>C	ENSP00000430424.1:n.*96G>C
ENST00000518292.1:n.476G>C
ENST00000518813.5:n.1669G>C
ENST00000519025.5:c.145G>C	ENSP00000429156.1:p.Gly49Arg
ENST00000520550.1:n.525G>C
ENST00000521381.5:c.1126G>C	ENSP00000428056.1:p.Gly376Arg
ENST00000521409.5:c.37G>C	ENSP00000431058.1:p.Gly13Arg
ENST00000521657.5:c.1126G>C	ENSP00000429277.1:p.Gly376Arg
ENST00000523807.5:c.316G>C	ENSP00000430126.1:p.Gly106Arg
ENST00000523872.1:c.37G>C	ENSP00000430098.1:p.Gly13Arg
NM_001242466.1:c.37G>C	NP_001229395.1:p.Gly13Arg
NM_181504.3:c.316G>C	NP_852556.2:p.Gly106Arg
NM_181523.2:c.1126G>C	NP_852664.1:p.Gly376Arg
NM_181524.1:c.226G>C	NP_852665.1:p.Gly76Arg
XM_005248542.2:c.1126G>C	XP_005248599.1:p.Gly376Arg
XM_011543493.1:c.799G>C	XP_011541795.1:p.Gly267Arg
XM_005248542.3:c.1126G>C	XP_005248599.1:p.Gly376Arg
XM_011543493.3:c.799G>C	XP_011541795.1:p.Gly267Arg
XM_017009585.2:c.1126G>C	XP_016865074.1:p.Gly376Arg
XM_017009586.1:c.853G>C	XP_016865075.1:p.Gly285Arg
NM_181523.3:c.1126G>C MANE Select	NP_852664.1:p.Gly376Arg
NM_001242466.2:c.37G>C	NP_001229395.1:p.Gly13Arg
NM_181504.4:c.316G>C	NP_852556.2:p.Gly106Arg
NM_181524.2:c.226G>C	NP_852665.1:p.Gly76Arg