Canonical Allele Identifier: CA348277171
Community Standard Title: NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)
Gene: POLR1B HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_019014.6:c.3007C>A MANE Select NP_061887.2:p.Arg1003Ser
ENST00000263331.10:c.3007C>A MANE Select ENSP00000263331.5:p.Arg1003Ser
NM_001137604.2:c.2839C>A NP_001131076.1:p.Arg947Ser
NM_001137604.3:c.2839C>A NP_001131076.1:p.Arg947Ser
NM_001282772.1:c.3121C>A NP_001269701.1:p.Arg1041Ser
NM_001282772.2:c.3121C>A NP_001269701.1:p.Arg1041Ser
NM_001282774.1:c.2458C>A NP_001269703.1:p.Arg820Ser
NM_001282774.2:c.2458C>A NP_001269703.1:p.Arg820Ser
NM_001282776.1:c.2374C>A NP_001269705.1:p.Arg792Ser
NM_001282776.2:c.2374C>A NP_001269705.1:p.Arg792Ser
NM_001282777.1:c.2590C>A NP_001269706.1:p.Arg864Ser
NM_001282777.2:c.2590C>A NP_001269706.1:p.Arg864Ser
NM_001282779.1:c.2590C>A NP_001269708.1:p.Arg864Ser
NM_001282779.2:c.2590C>A NP_001269708.1:p.Arg864Ser
NM_001371969.1:c.3145C>A NP_001358898.1:p.Arg1049Ser
NM_001371970.1:c.2590C>A NP_001358899.1:p.Arg864Ser
NM_001371971.1:c.2374C>A NP_001358900.1:p.Arg792Ser
NM_019014.5:c.3007C>A NP_061887.2:p.Arg1003Ser
ENST00000263331.9:c.3007C>A ENSP00000263331.5:p.Arg1003Ser
ENST00000333990.10:c.*2877C>A ENSP00000334589.6:n.*2877C>A
ENST00000409894.7:c.2458C>A ENSP00000387143.3:p.Arg820Ser
ENST00000417433.6:c.2839C>A ENSP00000405358.2:p.Arg947Ser
ENST00000448770.5:c.*1254C>A ENSP00000390274.1:n.*1254C>A
ENST00000537335.5:c.2374C>A ENSP00000437914.1:p.Arg792Ser
ENST00000541869.5:c.3121C>A ENSP00000444136.1:p.Arg1041Ser