Canonical Allele Identifier: CA450384079
Gene: POLR1C HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.43488104C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43520366C>G , CM000668.2:g.43520366C>G GRCh38
NC_000006.11:g.43488104C>G , CM000668.1:g.43488104C>G GRCh37
NC_000006.10:g.43596082C>G NCBI36
NG_028283.1:g.8328C>G
NG_028283.3:g.15665C>G
NG_051658.1:g.60710G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.594C>G ENSP00000496683.1:p.Leu198=
ENST00000642195.1:c.594C>G MANE Select ENSP00000496044.1:p.Leu198=
ENST00000643341.1:c.594C>G ENSP00000496018.1:p.Leu198=
ENST00000643799.1:c.594C>G ENSP00000494529.1:p.Leu198=
ENST00000645141.1:c.*205C>G ENSP00000496755.1:n.*205C>G
ENST00000646188.1:c.429C>G ENSP00000496001.1:p.Leu143=
ENST00000646433.1:c.594C>G ENSP00000494368.1:p.Leu198=
ENST00000646700.1:c.594C>G ENSP00000495521.1:p.Leu198=
ENST00000304004.7:c.594C>G ENSP00000307212.3:p.Leu198=
ENST00000372344.6:c.594C>G ENSP00000361419.2:p.Leu198=
ENST00000372389.7:c.594C>G ENSP00000361465.3:p.Leu198=
ENST00000455605.2:n.887C>G
ENST00000481352.6:n.966C>G
ENST00000488601.6:n.833C>G
NM_203290.2:c.594C>G NP_976035.1:p.Leu198=
XM_005249491.1:c.594C>G XP_005249548.1:p.Leu198=
XM_011515000.1:c.594C>G XP_011513302.1:p.Leu198=
NM_001318876.1:c.594C>G NP_001305805.1:p.Leu198=
NM_001363658.1:c.594C>G NP_001350587.1:p.Leu198=
NM_203290.3:c.594C>G NP_976035.1:p.Leu198=
NM_203290.4:c.594C>G MANE Select NP_976035.1:p.Leu198=
NM_001363658.2:c.594C>G NP_001350587.1:p.Leu198=
NM_001318876.2:c.594C>G NP_001305805.1:p.Leu198=