Canonical Allele Identifier: CA1590800356
Community Standard Title: NM_002609.4(PDGFRB):c.2959C= (p.Arg987=)
Gene: PDGFRB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150117796G= , CM000667.2:g.150117796G= GRCh38
NC_000005.9:g.149497359G= , CM000667.1:g.149497359G= GRCh37
NC_000005.8:g.149477552G= NCBI36
NG_012303.1:g.577C=
NG_023367.1:g.43064C=
NG_012303.2:g.577C=

Transcript Alleles

HGVS Amino-acid Change
NM_002609.4:c.2959C= MANE Select NP_002600.1:p.Arg987=
ENST00000261799.9:c.2959C= MANE Select ENSP00000261799.4:p.Arg987=
NM_001355016.1:c.2767C= NP_001341945.1:p.Arg923=
NM_001355016.2:c.2767C= NP_001341945.1:p.Arg923=
NM_001355017.1:c.2476C= NP_001341946.1:p.Arg826=
NM_001355017.2:c.2476C= NP_001341946.1:p.Arg826=
NM_002609.3:c.2959C= NP_002600.1:p.Arg987=
ENST00000261799.8:c.2959C= ENSP00000261799.4:p.Arg987=
ENST00000520579.5:c.*2273C= ENSP00000430026.1:n.*2273C=
XM_005268464.2:c.2767C= XP_005268521.1:p.Arg923=
XM_011537658.1:c.2959C= XP_011535960.1:p.Arg987=
XM_011537659.1:c.2959C= XP_011535961.1:p.Arg987=