Canonical Allele Identifier: CA450289088

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 1557154
• ClinVar RCV Id: RCV002194752
• dbSNP Id: rs1288522943
• gnomAD v3: 6-43519697-C-T
• gnomAD v4: 6-43519697-C-T
• MyVariant Identifiers: chr6:g.43487435C>T (hg19) ; chr6:g.43519697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519697C>T , CM000668.2:g.43519697C>T	GRCh38
NC_000006.11:g.43487435C>T , CM000668.1:g.43487435C>T	GRCh37
NC_000006.10:g.43595413C>T	NCBI36
NG_028283.1:g.7659C>T
NG_028283.3:g.14996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.250-9C>T	ENSP00000496683.1:n.250-9C>T
ENST00000642195.1:c.250-9C>T MANE Select	ENSP00000496044.1:n.250-9C>T
ENST00000643341.1:c.250-9C>T	ENSP00000496018.1:n.250-9C>T
ENST00000643799.1:c.250-9C>T	ENSP00000494529.1:n.250-9C>T
ENST00000645141.1:c.250-9C>T	ENSP00000496755.1:n.250-9C>T
ENST00000646188.1:c.85-9C>T	ENSP00000496001.1:n.85-9C>T
ENST00000646433.1:c.250-9C>T	ENSP00000494368.1:n.250-9C>T
ENST00000646700.1:c.250-9C>T	ENSP00000495521.1:n.250-9C>T
ENST00000304004.7:c.250-9C>T	ENSP00000307212.3:n.250-9C>T
ENST00000372344.6:c.250-9C>T	ENSP00000361419.2:n.250-9C>T
ENST00000372389.7:c.250-9C>T	ENSP00000361465.3:n.250-9C>T
ENST00000423780.1:c.248-9C>T
ENST00000428025.6:c.85-9C>T	ENSP00000395401.2:n.85-9C>T
ENST00000455605.2:n.227-9C>T
ENST00000481352.6:n.306-9C>T
ENST00000488601.6:n.262-9C>T
ENST00000512472.5:n.533C>T
NM_203290.2:c.250-9C>T	NP_976035.1:n.250-9C>T
XM_005249491.1:c.250-9C>T	XP_005249548.1:n.250-9C>T
XM_011515000.1:c.250-9C>T	XP_011513302.1:n.250-9C>T
NM_001318876.1:c.250-9C>T	NP_001305805.1:n.250-9C>T
NM_001363658.1:c.250-9C>T	NP_001350587.1:n.250-9C>T
NM_203290.3:c.250-9C>T	NP_976035.1:n.250-9C>T
NM_203290.4:c.250-9C>T MANE Select	NP_976035.1:n.250-9C>T
NM_001363658.2:c.250-9C>T	NP_001350587.1:n.250-9C>T
NM_001318876.2:c.250-9C>T	NP_001305805.1:n.250-9C>T