Canonical Allele Identifier: CA11078759
Community Standard Title: NM_019014.6(POLR1B):c.1159-187C>T
Gene: POLR1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112557723C>T , CM000664.2:g.112557723C>T GRCh38
NC_000002.11:g.113315300C>T , CM000664.1:g.113315300C>T GRCh37
NC_000002.10:g.113031771C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_019014.6:c.1159-187C>T MANE Select NP_061887.2:n.1159-187C>T
ENST00000263331.10:c.1159-187C>T MANE Select ENSP00000263331.5:n.1159-187C>T
NM_001137604.2:c.991-187C>T NP_001131076.1:n.991-187C>T
NM_001137604.3:c.991-187C>T NP_001131076.1:n.991-187C>T
NM_001282772.1:c.1273-187C>T NP_001269701.1:n.1273-187C>T
NM_001282772.2:c.1273-187C>T NP_001269701.1:n.1273-187C>T
NM_001282774.1:c.1158+4907C>T NP_001269703.1:n.1158+4907C>T
NM_001282774.2:c.1158+4907C>T NP_001269703.1:n.1158+4907C>T
NM_001282776.1:c.526-187C>T NP_001269705.1:n.526-187C>T
NM_001282776.2:c.526-187C>T NP_001269705.1:n.526-187C>T
NM_001282777.1:c.742-187C>T NP_001269706.1:n.742-187C>T
NM_001282777.2:c.742-187C>T NP_001269706.1:n.742-187C>T
NM_001282779.1:c.742-187C>T NP_001269708.1:n.742-187C>T
NM_001282779.2:c.742-187C>T NP_001269708.1:n.742-187C>T
NM_001371969.1:c.1159-187C>T NP_001358898.1:n.1159-187C>T
NM_001371970.1:c.742-187C>T NP_001358899.1:n.742-187C>T
NM_001371971.1:c.526-187C>T NP_001358900.1:n.526-187C>T
NM_019014.5:c.1159-187C>T NP_061887.2:n.1159-187C>T
ENST00000263331.9:c.1159-187C>T ENSP00000263331.5:n.1159-187C>T
ENST00000333990.10:c.*1029-187C>T ENSP00000334589.6:n.*1029-187C>T
ENST00000409894.7:c.1158+4907C>T ENSP00000387143.3:n.1158+4907C>T
ENST00000417433.6:c.991-187C>T ENSP00000405358.2:n.991-187C>T
ENST00000448770.5:c.178-6643C>T ENSP00000390274.1:n.178-6643C>T
ENST00000498054.1:n.362-187C>T
ENST00000537335.5:c.526-187C>T ENSP00000437914.1:n.526-187C>T
ENST00000541869.5:c.1273-187C>T ENSP00000444136.1:n.1273-187C>T