Canonical Allele Identifier: CA1624559763

Gene: POLR1C

Linked Data

• dbSNP Id: rs1793118207
• gnomAD v4: 6-43520683-C-CATCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520684_43520687dup , CM000668.2:g.43520684_43520687dup	GRCh38
NC_000006.11:g.43488422_43488425dup , CM000668.1:g.43488422_43488425dup	GRCh37
NC_000006.10:g.43596400_43596403dup	NCBI36
NG_028283.1:g.8646_8649dup
NG_028283.3:g.15983_15986dup
NG_051658.1:g.60389_60392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.715_718dup	ENSP00000496683.1:p.Thr240AsnfsTer5
ENST00000642195.1:c.715_718dup MANE Select	ENSP00000496044.1:p.Thr240AsnfsTer5
ENST00000643341.1:c.715_718dup	ENSP00000496018.1:p.Thr240AsnfsTer5
ENST00000643799.1:c.656-248_656-245dup	ENSP00000494529.1:n.656-248_656-245dup
ENST00000645141.1:c.*326_*329dup	ENSP00000496755.1:n.*326_*329dup
ENST00000646188.1:c.550_553dup	ENSP00000496001.1:p.Thr185AsnfsTer5
ENST00000646433.1:c.715_718dup	ENSP00000494368.1:p.Thr240AsnfsTer5
ENST00000646700.1:c.715_718dup	ENSP00000495521.1:p.Thr240AsnfsTer5
ENST00000304004.7:c.715_718dup	ENSP00000307212.3:p.Thr240AsnfsTer5
ENST00000372344.6:c.656-248_656-245dup	ENSP00000361419.2:n.656-248_656-245dup
ENST00000372389.7:c.715_718dup	ENSP00000361465.3:p.Thr240AsnfsTer5
ENST00000455605.2:n.1205_1208dup
ENST00000481352.6:n.1087_1090dup
ENST00000488601.6:n.954_957dup
NM_203290.2:c.715_718dup	NP_976035.1:p.Thr240AsnfsTer5
XM_005249491.1:c.715_718dup	XP_005249548.1:p.Thr240AsnfsTer5
XM_011515000.1:c.715_718dup	XP_011513302.1:p.Thr240AsnfsTer5
NM_001318876.1:c.715_718dup	NP_001305805.1:p.Thr240AsnfsTer5
NM_001363658.1:c.715_718dup	NP_001350587.1:p.Thr240AsnfsTer5
NM_203290.3:c.715_718dup	NP_976035.1:p.Thr240AsnfsTer5
NM_203290.4:c.715_718dup MANE Select	NP_976035.1:p.Thr240AsnfsTer5
NM_001363658.2:c.715_718dup	NP_001350587.1:p.Thr240AsnfsTer5
NM_001318876.2:c.715_718dup	NP_001305805.1:p.Thr240AsnfsTer5