Canonical Allele Identifier: CA3289968
Community Standard Title: NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu)
Gene: PIK3R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68226980C>T , CM000667.2:g.68226980C>T GRCh38
NC_000005.9:g.67522808C>T , CM000667.1:g.67522808C>T GRCh37
NC_000005.8:g.67558564C>T NCBI36
NG_012849.2:g.16225C>T

Transcript Alleles

HGVS Amino-acid Change
NM_181523.3:c.305C>T MANE Select NP_852664.1:p.Ser102Leu
ENST00000521381.6:c.305C>T MANE Select ENSP00000428056.1:p.Ser102Leu
NM_181523.2:c.305C>T NP_852664.1:p.Ser102Leu
ENST00000517412.1:n.544C>T
ENST00000517412.2:n.905C>T
ENST00000517643.2:c.305C>T ENSP00000513333.1:p.Ser102Leu
ENST00000521381.5:c.305C>T ENSP00000428056.1:p.Ser102Leu
ENST00000521657.5:c.305C>T ENSP00000429277.1:p.Ser102Leu
ENST00000521657.6:c.305C>T ENSP00000429277.1:p.Ser102Leu
ENST00000697457.1:c.305C>T ENSP00000513315.1:p.Ser102Leu
ENST00000697458.1:c.305C>T ENSP00000513316.1:p.Ser102Leu
ENST00000697459.1:n.522C>T
ENST00000697461.1:c.305C>T ENSP00000513319.1:p.Ser102Leu
ENST00000697555.1:n.870C>T
ENST00000697556.1:c.305C>T ENSP00000513334.1:p.Ser102Leu
XM_005248542.2:c.305C>T XP_005248599.1:p.Ser102Leu
XM_005248542.3:c.305C>T XP_005248599.1:p.Ser102Leu
XM_017009585.2:c.305C>T XP_016865074.1:p.Ser102Leu