Canonical Allele Identifier: CA1624558438

Gene: POLR1C

Linked Data

• dbSNP Id: rs1793043677

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519807_43519808dup , CM000668.2:g.43519807_43519808dup	GRCh38
NC_000006.11:g.43487545_43487546dup , CM000668.1:g.43487545_43487546dup	GRCh37
NC_000006.10:g.43595523_43595524dup	NCBI36
NG_028283.1:g.7769_7770dup
NG_028283.3:g.15106_15107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.351_352dup	ENSP00000496683.1:p.Asp118ValfsTer19
ENST00000642195.1:c.351_352dup MANE Select	ENSP00000496044.1:p.Asp118ValfsTer19
ENST00000643341.1:c.351_352dup	ENSP00000496018.1:p.Asp118ValfsTer19
ENST00000643799.1:c.351_352dup	ENSP00000494529.1:p.Asp118ValfsTer19
ENST00000645141.1:c.351_352dup	ENSP00000496755.1:p.Asp118ValfsTer15
ENST00000646188.1:c.186_187dup	ENSP00000496001.1:p.Asp63ValfsTer19
ENST00000646433.1:c.351_352dup	ENSP00000494368.1:p.Asp118ValfsTer19
ENST00000646700.1:c.351_352dup	ENSP00000495521.1:p.Asp118ValfsTer19
ENST00000304004.7:c.351_352dup	ENSP00000307212.3:p.Asp118ValfsTer19
ENST00000372344.6:c.351_352dup	ENSP00000361419.2:p.Asp118ValfsTer19
ENST00000372389.7:c.351_352dup	ENSP00000361465.3:p.Asp118ValfsTer19
ENST00000423780.1:c.349_350dup
ENST00000428025.6:c.186_187dup	ENSP00000395401.2:p.Asp63ValfsTer19
ENST00000455605.2:n.328_329dup
ENST00000481352.6:n.407_408dup
ENST00000488601.6:n.363_364dup
NM_203290.2:c.351_352dup	NP_976035.1:p.Asp118ValfsTer19
XM_005249491.1:c.351_352dup	XP_005249548.1:p.Asp118ValfsTer19
XM_011515000.1:c.351_352dup	XP_011513302.1:p.Asp118ValfsTer19
NM_001318876.1:c.351_352dup	NP_001305805.1:p.Asp118ValfsTer19
NM_001363658.1:c.351_352dup	NP_001350587.1:p.Asp118ValfsTer19
NM_203290.3:c.351_352dup	NP_976035.1:p.Asp118ValfsTer19
NM_203290.4:c.351_352dup MANE Select	NP_976035.1:p.Asp118ValfsTer19
NM_001363658.2:c.351_352dup	NP_001350587.1:p.Asp118ValfsTer19
NM_001318876.2:c.351_352dup	NP_001305805.1:p.Asp118ValfsTer19