Canonical Allele Identifier: CA359880010

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 1338736
• ClinVar RCV Id: RCV001818106
• dbSNP Id: rs2112260009
• COSMIC: COSM3071885 ; COSM3071886 ; COSM3071887
• MyVariant Identifiers: chr5:g.67589313T>C (hg19) ; chr5:g.68293485T>C (hg38)
• MutSpliceDB: CA359880010

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68293485T>C , CM000667.2:g.68293485T>C	GRCh38
NC_000005.9:g.67589313T>C , CM000667.1:g.67589313T>C	GRCh37
NC_000005.8:g.67625069T>C	NCBI36
NG_012849.2:g.82730T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.399+2T>C	ENSP00000323512.8:n.399+2T>C
ENST00000336483.10:c.489+2T>C	ENSP00000338554.5:n.489+2T>C
ENST00000517643.2:c.1299+2T>C	ENSP00000513333.1:n.1299+2T>C
ENST00000517698.6:c.*269+2T>C	ENSP00000430424.1:n.*269+2T>C
ENST00000521657.6:c.1299+2T>C	ENSP00000429277.1:n.1299+2T>C
ENST00000522084.6:c.489+2T>C	ENSP00000429766.2:n.489+2T>C
ENST00000697457.1:c.1224+2T>C	ENSP00000513315.1:n.1224+2T>C
ENST00000697458.1:c.1299+2T>C	ENSP00000513316.1:n.1299+2T>C
ENST00000697460.1:c.774+2T>C	ENSP00000513318.1:n.774+2T>C
ENST00000697461.1:c.1299+2T>C	ENSP00000513319.1:n.1299+2T>C
ENST00000697462.1:c.489+2T>C	ENSP00000513320.1:n.489+2T>C
ENST00000697463.1:n.940+2T>C
ENST00000697464.1:c.*265+2T>C	ENSP00000513322.1:n.*265+2T>C
ENST00000697465.1:c.336+2T>C	ENSP00000513323.1:n.336+2T>C
ENST00000697466.1:c.306+2T>C	ENSP00000513324.1:n.306+2T>C
ENST00000697467.1:c.210+2T>C	ENSP00000513325.1:n.210+2T>C
ENST00000697468.1:c.282+2T>C	ENSP00000513326.1:n.282+2T>C
ENST00000697556.1:c.1206+2T>C	ENSP00000513334.1:n.1206+2T>C
ENST00000697557.1:c.282+2T>C	ENSP00000513335.1:n.282+2T>C
ENST00000521381.6:c.1299+2T>C MANE Select	ENSP00000428056.1:n.1299+2T>C
ENST00000320694.12:c.399+2T>C	ENSP00000323512.8:n.399+2T>C
ENST00000336483.9:c.489+2T>C	ENSP00000338554.5:n.489+2T>C
ENST00000517698.5:c.*269+2T>C	ENSP00000430424.1:n.*269+2T>C
ENST00000518813.5:n.1842+2T>C
ENST00000519025.5:c.318+2T>C	ENSP00000429156.1:n.318+2T>C
ENST00000520550.1:n.698+2T>C
ENST00000521381.5:c.1299+2T>C	ENSP00000428056.1:n.1299+2T>C
ENST00000521409.5:c.210+2T>C	ENSP00000431058.1:n.210+2T>C
ENST00000521657.5:c.1299+2T>C	ENSP00000429277.1:n.1299+2T>C
ENST00000523872.1:c.210+2T>C	ENSP00000430098.1:n.210+2T>C
NM_001242466.1:c.210+2T>C	NP_001229395.1:n.210+2T>C
NM_181504.3:c.489+2T>C	NP_852556.2:n.489+2T>C
NM_181523.2:c.1299+2T>C	NP_852664.1:n.1299+2T>C
NM_181524.1:c.399+2T>C	NP_852665.1:n.399+2T>C
XM_005248542.2:c.1299+2T>C	XP_005248599.1:n.1299+2T>C
XM_011543493.1:c.972+2T>C	XP_011541795.1:n.972+2T>C
XM_005248542.3:c.1299+2T>C	XP_005248599.1:n.1299+2T>C
XM_011543493.3:c.972+2T>C	XP_011541795.1:n.972+2T>C
XM_017009585.2:c.1299+2T>C	XP_016865074.1:n.1299+2T>C
XM_017009586.1:c.1026+2T>C	XP_016865075.1:n.1026+2T>C
NM_181523.3:c.1299+2T>C MANE Select	NP_852664.1:n.1299+2T>C
NM_001242466.2:c.210+2T>C	NP_001229395.1:n.210+2T>C
NM_181504.4:c.489+2T>C	NP_852556.2:n.489+2T>C
NM_181524.2:c.399+2T>C	NP_852665.1:n.399+2T>C