Canonical Allele Identifier: CA16602529

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 376067
• ClinVar RCV Id: RCV000424889 ; RCV001309508
• dbSNP Id: rs773686816
• COSMIC: COSM35808 ; COSM1154505 ; COSM1154506
• MyVariant Identifiers: chr5:g.67591099C>G (hg19) ; chr5:g.68295271C>G (hg38)
• PubMed: PMID:24459181 ; PMID:25157968 ; PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295271C>G , CM000667.2:g.68295271C>G	GRCh38
NC_000005.9:g.67591099C>G , CM000667.1:g.67591099C>G	GRCh37
NC_000005.8:g.67626855C>G	NCBI36
NG_012849.2:g.84516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.792C>G	ENSP00000323512.8:p.Asn264Lys
ENST00000336483.10:c.882C>G	ENSP00000338554.5:p.Asn294Lys
ENST00000517643.2:c.1692C>G	ENSP00000513333.1:p.Asn564Lys
ENST00000517698.6:c.*662C>G	ENSP00000430424.1:n.*662C>G
ENST00000521657.6:c.1692C>G	ENSP00000429277.1:p.Asn564Lys
ENST00000522084.6:c.882C>G	ENSP00000429766.2:p.Asn294Lys
ENST00000697457.1:c.1617C>G	ENSP00000513315.1:p.Asn539Lys
ENST00000697458.1:c.1692C>G	ENSP00000513316.1:p.Asn564Lys
ENST00000697460.1:c.1167C>G	ENSP00000513318.1:p.Asn389Lys
ENST00000697461.1:c.1692C>G	ENSP00000513319.1:p.Asn564Lys
ENST00000697462.1:c.882C>G	ENSP00000513320.1:p.Asn294Lys
ENST00000697463.1:n.1333C>G
ENST00000697464.1:c.*658C>G	ENSP00000513322.1:n.*658C>G
ENST00000697465.1:c.729C>G	ENSP00000513323.1:p.Asn243Lys
ENST00000697466.1:c.699C>G	ENSP00000513324.1:p.Asn233Lys
ENST00000697467.1:c.603C>G	ENSP00000513325.1:p.Asn201Lys
ENST00000697468.1:c.675C>G	ENSP00000513326.1:p.Asn225Lys
ENST00000697469.1:c.384C>G	ENSP00000513327.1:p.Asn128Lys
ENST00000697470.1:c.288C>G	ENSP00000513328.1:p.Asn96Lys
ENST00000697557.1:c.675C>G	ENSP00000513335.1:p.Asn225Lys
ENST00000521381.6:c.1692C>G MANE Select	ENSP00000428056.1:p.Asn564Lys
ENST00000320694.12:c.792C>G	ENSP00000323512.8:p.Asn264Lys
ENST00000336483.9:c.882C>G	ENSP00000338554.5:p.Asn294Lys
ENST00000517698.5:c.*662C>G	ENSP00000430424.1:n.*662C>G
ENST00000518813.5:n.2235C>G
ENST00000520550.1:n.1091C>G
ENST00000521381.5:c.1692C>G	ENSP00000428056.1:p.Asn564Lys
ENST00000521657.5:c.1692C>G	ENSP00000429277.1:p.Asn564Lys
ENST00000523872.1:c.603C>G	ENSP00000430098.1:p.Asn201Lys
NM_001242466.1:c.603C>G	NP_001229395.1:p.Asn201Lys
NM_181504.3:c.882C>G	NP_852556.2:p.Asn294Lys
NM_181523.2:c.1692C>G	NP_852664.1:p.Asn564Lys
NM_181524.1:c.792C>G	NP_852665.1:p.Asn264Lys
XM_005248542.2:c.1692C>G	XP_005248599.1:p.Asn564Lys
XM_011543493.1:c.1365C>G	XP_011541795.1:p.Asn455Lys
XM_005248542.3:c.1692C>G	XP_005248599.1:p.Asn564Lys
XM_011543493.3:c.1365C>G	XP_011541795.1:p.Asn455Lys
XM_017009585.2:c.1692C>G	XP_016865074.1:p.Asn564Lys
XM_017009586.1:c.1419C>G	XP_016865075.1:p.Asn473Lys
NM_181523.3:c.1692C>G MANE Select	NP_852664.1:p.Asn564Lys
NM_001242466.2:c.603C>G	NP_001229395.1:p.Asn201Lys
NM_181504.4:c.882C>G	NP_852556.2:p.Asn294Lys
NM_181524.2:c.792C>G	NP_852665.1:p.Asn264Lys