Canonical Allele Identifier: CA348277170
Community Standard Title: NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)
Gene: POLR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112575328C>T , CM000664.2:g.112575328C>T GRCh38
NC_000002.11:g.113332905C>T , CM000664.1:g.113332905C>T GRCh37
NC_000002.10:g.113049376C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_019014.6:c.3007C>T MANE Select NP_061887.2:p.Arg1003Cys
ENST00000263331.10:c.3007C>T MANE Select ENSP00000263331.5:p.Arg1003Cys
NM_001137604.2:c.2839C>T NP_001131076.1:p.Arg947Cys
NM_001137604.3:c.2839C>T NP_001131076.1:p.Arg947Cys
NM_001282772.1:c.3121C>T NP_001269701.1:p.Arg1041Cys
NM_001282772.2:c.3121C>T NP_001269701.1:p.Arg1041Cys
NM_001282774.1:c.2458C>T NP_001269703.1:p.Arg820Cys
NM_001282774.2:c.2458C>T NP_001269703.1:p.Arg820Cys
NM_001282776.1:c.2374C>T NP_001269705.1:p.Arg792Cys
NM_001282776.2:c.2374C>T NP_001269705.1:p.Arg792Cys
NM_001282777.1:c.2590C>T NP_001269706.1:p.Arg864Cys
NM_001282777.2:c.2590C>T NP_001269706.1:p.Arg864Cys
NM_001282779.1:c.2590C>T NP_001269708.1:p.Arg864Cys
NM_001282779.2:c.2590C>T NP_001269708.1:p.Arg864Cys
NM_001371969.1:c.3145C>T NP_001358898.1:p.Arg1049Cys
NM_001371970.1:c.2590C>T NP_001358899.1:p.Arg864Cys
NM_001371971.1:c.2374C>T NP_001358900.1:p.Arg792Cys
NM_019014.5:c.3007C>T NP_061887.2:p.Arg1003Cys
ENST00000263331.9:c.3007C>T ENSP00000263331.5:p.Arg1003Cys
ENST00000333990.10:c.*2877C>T ENSP00000334589.6:n.*2877C>T
ENST00000409894.7:c.2458C>T ENSP00000387143.3:p.Arg820Cys
ENST00000417433.6:c.2839C>T ENSP00000405358.2:p.Arg947Cys
ENST00000448770.5:c.*1254C>T ENSP00000390274.1:n.*1254C>T
ENST00000537335.5:c.2374C>T ENSP00000437914.1:p.Arg792Cys
ENST00000541869.5:c.3121C>T ENSP00000444136.1:p.Arg1041Cys