Canonical Allele Identifier: CA276157

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 209182
• ClinVar RCV Id: RCV000191118
• dbSNP Id: rs797045063
• MyVariant Identifiers: chr5:g.67590398T>C (hg19) ; chr5:g.68294570T>C (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68294570T>C , CM000667.2:g.68294570T>C	GRCh38
NC_000005.9:g.67590398T>C , CM000667.1:g.67590398T>C	GRCh37
NC_000005.8:g.67626154T>C	NCBI36
NG_012849.2:g.83815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.560T>C	ENSP00000323512.8:p.Phe187Ser
ENST00000336483.10:c.650T>C	ENSP00000338554.5:p.Phe217Ser
ENST00000517643.2:c.1460T>C	ENSP00000513333.1:p.Phe487Ser
ENST00000517698.6:c.*430T>C	ENSP00000430424.1:n.*430T>C
ENST00000521657.6:c.1460T>C	ENSP00000429277.1:p.Phe487Ser
ENST00000522084.6:c.650T>C	ENSP00000429766.2:p.Phe217Ser
ENST00000697457.1:c.1385T>C	ENSP00000513315.1:p.Phe462Ser
ENST00000697458.1:c.1460T>C	ENSP00000513316.1:p.Phe487Ser
ENST00000697460.1:c.935T>C	ENSP00000513318.1:p.Phe312Ser
ENST00000697461.1:c.1460T>C	ENSP00000513319.1:p.Phe487Ser
ENST00000697462.1:c.650T>C	ENSP00000513320.1:p.Phe217Ser
ENST00000697463.1:n.1101T>C
ENST00000697464.1:c.*426T>C	ENSP00000513322.1:n.*426T>C
ENST00000697465.1:c.497T>C	ENSP00000513323.1:p.Phe166Ser
ENST00000697466.1:c.467T>C	ENSP00000513324.1:p.Phe156Ser
ENST00000697467.1:c.371T>C	ENSP00000513325.1:p.Phe124Ser
ENST00000697468.1:c.443T>C	ENSP00000513326.1:p.Phe148Ser
ENST00000697469.1:c.152T>C	ENSP00000513327.1:p.Phe51Ser
ENST00000697470.1:c.56T>C	ENSP00000513328.1:p.Phe19Ser
ENST00000697557.1:c.443T>C	ENSP00000513335.1:p.Phe148Ser
ENST00000521381.6:c.1460T>C MANE Select	ENSP00000428056.1:p.Phe487Ser
ENST00000320694.12:c.560T>C	ENSP00000323512.8:p.Phe187Ser
ENST00000336483.9:c.650T>C	ENSP00000338554.5:p.Phe217Ser
ENST00000517698.5:c.*430T>C	ENSP00000430424.1:n.*430T>C
ENST00000518813.5:n.2003T>C
ENST00000519025.5:c.479T>C	ENSP00000429156.1:p.Phe160Ser
ENST00000520550.1:n.859T>C
ENST00000521381.5:c.1460T>C	ENSP00000428056.1:p.Phe487Ser
ENST00000521409.5:c.371T>C	ENSP00000431058.1:p.Phe124Ser
ENST00000521657.5:c.1460T>C	ENSP00000429277.1:p.Phe487Ser
ENST00000523872.1:c.371T>C	ENSP00000430098.1:p.Phe124Ser
NM_001242466.1:c.371T>C	NP_001229395.1:p.Phe124Ser
NM_181504.3:c.650T>C	NP_852556.2:p.Phe217Ser
NM_181523.2:c.1460T>C	NP_852664.1:p.Phe487Ser
NM_181524.1:c.560T>C	NP_852665.1:p.Phe187Ser
XM_005248542.2:c.1460T>C	XP_005248599.1:p.Phe487Ser
XM_011543493.1:c.1133T>C	XP_011541795.1:p.Phe378Ser
XM_005248542.3:c.1460T>C	XP_005248599.1:p.Phe487Ser
XM_011543493.3:c.1133T>C	XP_011541795.1:p.Phe378Ser
XM_017009585.2:c.1460T>C	XP_016865074.1:p.Phe487Ser
XM_017009586.1:c.1187T>C	XP_016865075.1:p.Phe396Ser
NM_181523.3:c.1460T>C MANE Select	NP_852664.1:p.Phe487Ser
NM_001242466.2:c.371T>C	NP_001229395.1:p.Phe124Ser
NM_181504.4:c.650T>C	NP_852556.2:p.Phe217Ser
NM_181524.2:c.560T>C	NP_852665.1:p.Phe187Ser