Canonical Allele Identifier: CA3825444
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs746689926
gnomAD v2: 6-43487890-T-C
gnomAD v3: 6-43520152-T-C
gnomAD v4: 6-43520152-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43520152T>C , CM000668.2:g.43520152T>C GRCh38
NC_000006.11:g.43487890T>C , CM000668.1:g.43487890T>C GRCh37
NC_000006.10:g.43595868T>C NCBI36
NG_028283.1:g.8114T>C
NG_028283.3:g.15451T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.469T>C ENSP00000496683.1:p.Ser157Pro
ENST00000642195.1:c.469T>C MANE Select ENSP00000496044.1:p.Ser157Pro
ENST00000643341.1:c.469T>C ENSP00000496018.1:p.Ser157Pro
ENST00000643799.1:c.469T>C ENSP00000494529.1:p.Ser157Pro
ENST00000645141.1:c.*80T>C ENSP00000496755.1:n.*80T>C
ENST00000646188.1:c.304T>C ENSP00000496001.1:p.Ser102Pro
ENST00000646433.1:c.469T>C ENSP00000494368.1:p.Ser157Pro
ENST00000646700.1:c.469T>C ENSP00000495521.1:p.Ser157Pro
ENST00000304004.7:c.469T>C ENSP00000307212.3:p.Ser157Pro
ENST00000372344.6:c.469T>C ENSP00000361419.2:p.Ser157Pro
ENST00000372389.7:c.469T>C ENSP00000361465.3:p.Ser157Pro
ENST00000423780.1:c.381-123T>C
ENST00000428025.6:c.304T>C ENSP00000395401.2:p.Ser102Pro
ENST00000455605.2:n.673T>C
ENST00000481352.6:n.752T>C
ENST00000488601.6:n.708T>C
NM_203290.2:c.469T>C NP_976035.1:p.Ser157Pro
XM_005249491.1:c.469T>C XP_005249548.1:p.Ser157Pro
XM_011515000.1:c.469T>C XP_011513302.1:p.Ser157Pro
NM_001318876.1:c.469T>C NP_001305805.1:p.Ser157Pro
NM_001363658.1:c.469T>C NP_001350587.1:p.Ser157Pro
NM_203290.3:c.469T>C NP_976035.1:p.Ser157Pro
NM_203290.4:c.469T>C MANE Select NP_976035.1:p.Ser157Pro
NM_001363658.2:c.469T>C NP_001350587.1:p.Ser157Pro
NM_001318876.2:c.469T>C NP_001305805.1:p.Ser157Pro