Canonical Allele Identifier: CA444485818
Community Standard Title: NM_181523.3(PIK3R1):c.369C>A (p.Ala123=)
Gene: PIK3R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68273424C>A , CM000667.2:g.68273424C>A GRCh38
NC_000005.9:g.67569252C>A , CM000667.1:g.67569252C>A GRCh37
NC_000005.8:g.67605008C>A NCBI36
NG_012849.2:g.62669C>A

Transcript Alleles

HGVS Amino-acid Change
NM_181523.3:c.369C>A MANE Select NP_852664.1:p.Ala123=
ENST00000521381.6:c.369C>A MANE Select ENSP00000428056.1:p.Ala123=
NM_181523.2:c.369C>A NP_852664.1:p.Ala123=
ENST00000517412.1:n.608C>A
ENST00000517412.2:n.969C>A
ENST00000517643.2:c.369C>A ENSP00000513333.1:p.Ala123=
ENST00000520675.1:c.75C>A ENSP00000428566.1:p.Ala25=
ENST00000521381.5:c.369C>A ENSP00000428056.1:p.Ala123=
ENST00000521657.5:c.369C>A ENSP00000429277.1:p.Ala123=
ENST00000521657.6:c.369C>A ENSP00000429277.1:p.Ala123=
ENST00000697457.1:c.369C>A ENSP00000513315.1:p.Ala123=
ENST00000697458.1:c.369C>A ENSP00000513316.1:p.Ala123=
ENST00000697460.1:c.-157C>A ENSP00000513318.1:n.-157C>A
ENST00000697461.1:c.369C>A ENSP00000513319.1:p.Ala123=
ENST00000697556.1:c.335-515C>A ENSP00000513334.1:n.335-515C>A
XM_005248542.2:c.369C>A XP_005248599.1:p.Ala123=
XM_005248542.3:c.369C>A XP_005248599.1:p.Ala123=
XM_011543493.1:c.42C>A XP_011541795.1:p.Ala14=
XM_011543493.3:c.42C>A XP_011541795.1:p.Ala14=
XM_017009585.2:c.369C>A XP_016865074.1:p.Ala123=
XM_017009586.1:c.96C>A XP_016865075.1:p.Ala32=