Canonical Allele Identifier: CA3825648

Gene: POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43521197C>T , CM000668.2:g.43521197C>T	GRCh38
NC_000006.11:g.43488935C>T , CM000668.1:g.43488935C>T	GRCh37
NC_000006.10:g.43596913C>T	NCBI36
NG_028283.1:g.9159C>T
NG_028283.3:g.16496C>T
NG_051658.1:g.59879G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203290.4:c.938C>T MANE Select	NP_976035.1:p.Thr313Met
ENST00000642195.1:c.938C>T MANE Select	ENSP00000496044.1:p.Thr313Met
NM_001318876.1:c.922+149C>T	NP_001305805.1:n.922+149C>T
NM_001318876.2:c.922+149C>T	NP_001305805.1:n.922+149C>T
NM_001363658.1:c.922+149C>T	NP_001350587.1:n.922+149C>T
NM_001363658.2:c.922+149C>T	NP_001350587.1:n.922+149C>T
NM_203290.2:c.938C>T	NP_976035.1:p.Thr313Met
NM_203290.3:c.938C>T	NP_976035.1:p.Thr313Met
ENST00000304004.7:c.922+149C>T	ENSP00000307212.3:n.922+149C>T
ENST00000372344.6:c.788C>T	ENSP00000361419.2:p.Thr263Met
ENST00000372389.7:c.938C>T	ENSP00000361465.3:p.Thr313Met
ENST00000455605.2:n.1585C>T
ENST00000481352.6:n.1443C>T
ENST00000607635.2:c.922+149C>T	ENSP00000496683.1:n.922+149C>T
ENST00000643341.1:c.922+149C>T	ENSP00000496018.1:n.922+149C>T
ENST00000643799.1:c.788C>T	ENSP00000494529.1:p.Thr263Met
ENST00000645141.1:c.*549C>T	ENSP00000496755.1:n.*549C>T
ENST00000646188.1:c.773C>T	ENSP00000496001.1:p.Thr258Met
ENST00000646433.1:c.922+149C>T	ENSP00000494368.1:n.922+149C>T
ENST00000646700.1:c.922+149C>T	ENSP00000495521.1:n.922+149C>T
XM_005249491.1:c.922+149C>T	XP_005249548.1:n.922+149C>T
XM_011515000.1:c.922+149C>T	XP_011513302.1:n.922+149C>T