Canonical Allele Identifier: CA359872525

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68273398C>G , CM000667.2:g.68273398C>G	GRCh38
NC_000005.9:g.67569226C>G , CM000667.1:g.67569226C>G	GRCh37
NC_000005.8:g.67604982C>G	NCBI36
NG_012849.2:g.62643C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181523.3:c.343C>G MANE Select	NP_852664.1:p.Leu115Val
ENST00000521381.6:c.343C>G MANE Select	ENSP00000428056.1:p.Leu115Val
NM_181523.2:c.343C>G	NP_852664.1:p.Leu115Val
ENST00000517412.1:n.582C>G
ENST00000517412.2:n.943C>G
ENST00000517643.2:c.343C>G	ENSP00000513333.1:p.Leu115Val
ENST00000520675.1:c.49C>G	ENSP00000428566.1:p.Leu17Val
ENST00000521381.5:c.343C>G	ENSP00000428056.1:p.Leu115Val
ENST00000521657.5:c.343C>G	ENSP00000429277.1:p.Leu115Val
ENST00000521657.6:c.343C>G	ENSP00000429277.1:p.Leu115Val
ENST00000697457.1:c.343C>G	ENSP00000513315.1:p.Leu115Val
ENST00000697458.1:c.343C>G	ENSP00000513316.1:p.Leu115Val
ENST00000697460.1:c.-183C>G	ENSP00000513318.1:n.-183C>G
ENST00000697461.1:c.343C>G	ENSP00000513319.1:p.Leu115Val
ENST00000697556.1:c.335-541C>G	ENSP00000513334.1:n.335-541C>G
XM_005248542.2:c.343C>G	XP_005248599.1:p.Leu115Val
XM_005248542.3:c.343C>G	XP_005248599.1:p.Leu115Val
XM_011543493.1:c.16C>G	XP_011541795.1:p.Leu6Val
XM_011543493.3:c.16C>G	XP_011541795.1:p.Leu6Val
XM_017009585.2:c.343C>G	XP_016865074.1:p.Leu115Val
XM_017009586.1:c.70C>G	XP_016865075.1:p.Leu24Val