Canonical Allele Identifier: CA3290426
Gene: PIK3R1 HGNC NCBI
ClinVar RCV:
RCV000443391
RCV003992292
RCV004022324
ClinVar Variation:
379896
dbSNP:
780724594
gnomAD v2:
5:67590508 T / C
gnomAD v4:
chr5-68294680-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr5:g.68294680T>C
GRCh37 chr5:g.67590508T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68294680T>C , CM000667.2:g.68294680T>C GRCh38
NC_000005.9:g.67590508T>C , CM000667.1:g.67590508T>C GRCh37
NC_000005.8:g.67626264T>C NCBI36
NG_012849.2:g.83925T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.668+2T>C ENSP00000323512.8:n.668+2T>C
ENST00000336483.10:c.758+2T>C ENSP00000338554.5:n.758+2T>C
ENST00000517643.2:c.1568+2T>C ENSP00000513333.1:n.1568+2T>C
ENST00000517698.6:c.*538+2T>C ENSP00000430424.1:n.*538+2T>C
ENST00000521657.6:c.1568+2T>C ENSP00000429277.1:n.1568+2T>C
ENST00000522084.6:c.758+2T>C ENSP00000429766.2:n.758+2T>C
ENST00000697457.1:c.1493+2T>C ENSP00000513315.1:n.1493+2T>C
ENST00000697458.1:c.1568+2T>C ENSP00000513316.1:n.1568+2T>C
ENST00000697460.1:c.1043+2T>C ENSP00000513318.1:n.1043+2T>C
ENST00000697461.1:c.1568+2T>C ENSP00000513319.1:n.1568+2T>C
ENST00000697462.1:c.758+2T>C ENSP00000513320.1:n.758+2T>C
ENST00000697463.1:n.1209+2T>C
ENST00000697464.1:c.*534+2T>C ENSP00000513322.1:n.*534+2T>C
ENST00000697465.1:c.605+2T>C ENSP00000513323.1:n.605+2T>C
ENST00000697466.1:c.575+2T>C ENSP00000513324.1:n.575+2T>C
ENST00000697467.1:c.479+2T>C ENSP00000513325.1:n.479+2T>C
ENST00000697468.1:c.551+2T>C ENSP00000513326.1:n.551+2T>C
ENST00000697469.1:c.260+2T>C ENSP00000513327.1:n.260+2T>C
ENST00000697470.1:c.164+2T>C ENSP00000513328.1:n.164+2T>C
ENST00000697557.1:c.551+2T>C ENSP00000513335.1:n.551+2T>C
ENST00000521381.6:c.1568+2T>C MANE Select ENSP00000428056.1:n.1568+2T>C
ENST00000320694.12:c.668+2T>C ENSP00000323512.8:n.668+2T>C
ENST00000336483.9:c.758+2T>C ENSP00000338554.5:n.758+2T>C
ENST00000517698.5:c.*538+2T>C ENSP00000430424.1:n.*538+2T>C
ENST00000518813.5:n.2111+2T>C
ENST00000520550.1:n.967+2T>C
ENST00000521381.5:c.1568+2T>C ENSP00000428056.1:n.1568+2T>C
ENST00000521657.5:c.1568+2T>C ENSP00000429277.1:n.1568+2T>C
ENST00000523872.1:c.479+2T>C ENSP00000430098.1:n.479+2T>C
NM_001242466.1:c.479+2T>C NP_001229395.1:n.479+2T>C
NM_181504.3:c.758+2T>C NP_852556.2:n.758+2T>C
NM_181523.2:c.1568+2T>C NP_852664.1:n.1568+2T>C
NM_181524.1:c.668+2T>C NP_852665.1:n.668+2T>C
XM_005248542.2:c.1568+2T>C XP_005248599.1:n.1568+2T>C
XM_011543493.1:c.1241+2T>C XP_011541795.1:n.1241+2T>C
XM_005248542.3:c.1568+2T>C XP_005248599.1:n.1568+2T>C
XM_011543493.3:c.1241+2T>C XP_011541795.1:n.1241+2T>C
XM_017009585.2:c.1568+2T>C XP_016865074.1:n.1568+2T>C
XM_017009586.1:c.1295+2T>C XP_016865075.1:n.1295+2T>C
NM_181523.3:c.1568+2T>C MANE Select NP_852664.1:n.1568+2T>C
NM_001242466.2:c.479+2T>C NP_001229395.1:n.479+2T>C
NM_181504.4:c.758+2T>C NP_852556.2:n.758+2T>C
NM_181524.2:c.668+2T>C NP_852665.1:n.668+2T>C
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