Canonical Allele Identifier: CA359882575
Gene: PIK3R1 HGNC NCBI

Linked Data

dbSNP Id: rs1747638275

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295169G>C , CM000667.2:g.68295169G>C GRCh38
NC_000005.9:g.67590997G>C , CM000667.1:g.67590997G>C GRCh37
NC_000005.8:g.67626753G>C NCBI36
NG_012849.2:g.84414G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.690G>C ENSP00000323512.8:p.Lys230Asn
ENST00000336483.10:c.780G>C ENSP00000338554.5:p.Lys260Asn
ENST00000517643.2:c.1590G>C ENSP00000513333.1:p.Lys530Asn
ENST00000517698.6:c.*560G>C ENSP00000430424.1:n.*560G>C
ENST00000521657.6:c.1590G>C ENSP00000429277.1:p.Lys530Asn
ENST00000522084.6:c.780G>C ENSP00000429766.2:p.Lys260Asn
ENST00000697457.1:c.1515G>C ENSP00000513315.1:p.Lys505Asn
ENST00000697458.1:c.1590G>C ENSP00000513316.1:p.Lys530Asn
ENST00000697460.1:c.1065G>C ENSP00000513318.1:p.Lys355Asn
ENST00000697461.1:c.1590G>C ENSP00000513319.1:p.Lys530Asn
ENST00000697462.1:c.780G>C ENSP00000513320.1:p.Lys260Asn
ENST00000697463.1:n.1231G>C
ENST00000697464.1:c.*556G>C ENSP00000513322.1:n.*556G>C
ENST00000697465.1:c.627G>C ENSP00000513323.1:p.Lys209Asn
ENST00000697466.1:c.597G>C ENSP00000513324.1:p.Lys199Asn
ENST00000697467.1:c.501G>C ENSP00000513325.1:p.Lys167Asn
ENST00000697468.1:c.573G>C ENSP00000513326.1:p.Lys191Asn
ENST00000697469.1:c.282G>C ENSP00000513327.1:p.Lys94Asn
ENST00000697470.1:c.186G>C ENSP00000513328.1:p.Lys62Asn
ENST00000697557.1:c.573G>C ENSP00000513335.1:p.Lys191Asn
ENST00000521381.6:c.1590G>C MANE Select ENSP00000428056.1:p.Lys530Asn
ENST00000320694.12:c.690G>C ENSP00000323512.8:p.Lys230Asn
ENST00000336483.9:c.780G>C ENSP00000338554.5:p.Lys260Asn
ENST00000517698.5:c.*560G>C ENSP00000430424.1:n.*560G>C
ENST00000518813.5:n.2133G>C
ENST00000520550.1:n.989G>C
ENST00000521381.5:c.1590G>C ENSP00000428056.1:p.Lys530Asn
ENST00000521657.5:c.1590G>C ENSP00000429277.1:p.Lys530Asn
ENST00000523872.1:c.501G>C ENSP00000430098.1:p.Lys167Asn
NM_001242466.1:c.501G>C NP_001229395.1:p.Lys167Asn
NM_181504.3:c.780G>C NP_852556.2:p.Lys260Asn
NM_181523.2:c.1590G>C NP_852664.1:p.Lys530Asn
NM_181524.1:c.690G>C NP_852665.1:p.Lys230Asn
XM_005248542.2:c.1590G>C XP_005248599.1:p.Lys530Asn
XM_011543493.1:c.1263G>C XP_011541795.1:p.Lys421Asn
XM_005248542.3:c.1590G>C XP_005248599.1:p.Lys530Asn
XM_011543493.3:c.1263G>C XP_011541795.1:p.Lys421Asn
XM_017009585.2:c.1590G>C XP_016865074.1:p.Lys530Asn
XM_017009586.1:c.1317G>C XP_016865075.1:p.Lys439Asn
NM_181523.3:c.1590G>C MANE Select NP_852664.1:p.Lys530Asn
NM_001242466.2:c.501G>C NP_001229395.1:p.Lys167Asn
NM_181504.4:c.780G>C NP_852556.2:p.Lys260Asn
NM_181524.2:c.690G>C NP_852665.1:p.Lys230Asn