Canonical Allele Identifier: CA12054353
Gene: PIK3R1 HGNC NCBI

Linked Data

dbSNP Id: rs1823023
gnomAD v2: 5-67546406-A-G
gnomAD v3: 5-68250578-A-G
gnomAD v4: 5-68250578-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68250578A>G , CM000667.2:g.68250578A>G GRCh38
NC_000005.9:g.67546406A>G , CM000667.1:g.67546406A>G GRCh37
NC_000005.8:g.67582162A>G NCBI36
NG_012849.2:g.39823A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000517412.2:n.935-22812A>G
ENST00000517643.2:c.335-22812A>G ENSP00000513333.1:n.335-22812A>G
ENST00000521657.6:c.335-22812A>G ENSP00000429277.1:n.335-22812A>G
ENST00000697457.1:c.335-22812A>G ENSP00000513315.1:n.335-22812A>G
ENST00000697458.1:c.335-22812A>G ENSP00000513316.1:n.335-22812A>G
ENST00000697460.1:c.-192+22379A>G ENSP00000513318.1:n.-192+22379A>G
ENST00000697461.1:c.335-22812A>G ENSP00000513319.1:n.335-22812A>G
ENST00000697556.1:c.335-23361A>G ENSP00000513334.1:n.335-23361A>G
ENST00000521381.6:c.335-22812A>G MANE Select ENSP00000428056.1:n.335-22812A>G
ENST00000517412.1:n.574-22812A>G
ENST00000520675.1:c.40+10641A>G ENSP00000428566.1:n.40+10641A>G
ENST00000521381.5:c.335-22812A>G ENSP00000428056.1:n.335-22812A>G
ENST00000521657.5:c.335-22812A>G ENSP00000429277.1:n.335-22812A>G
NM_181523.2:c.335-22812A>G NP_852664.1:n.335-22812A>G
XM_005248542.2:c.335-22812A>G XP_005248599.1:n.335-22812A>G
XM_005248542.3:c.335-22812A>G XP_005248599.1:n.335-22812A>G
XM_017009585.2:c.335-22812A>G XP_016865074.1:n.335-22812A>G
XM_017009586.1:c.61+10641A>G XP_016865075.1:n.61+10641A>G
NM_181523.3:c.335-22812A>G MANE Select NP_852664.1:n.335-22812A>G