Canonical Allele Identifier: CA3825452

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 910446
• ClinVar RCV Id: RCV001162230 ; RCV001796375 ; RCV004545090
• dbSNP Id: rs200525225
• ExAC: 6:43487911 G / A
• gnomAD v2: 6-43487911-G-A
• gnomAD v3: 6-43520173-G-A
• gnomAD v4: 6-43520173-G-A
• COSMIC: COSM246708
• MyVariant Identifiers: chr6:g.43487911G>A (hg19) ; chr6:g.43520173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520173G>A , CM000668.2:g.43520173G>A	GRCh38
NC_000006.11:g.43487911G>A , CM000668.1:g.43487911G>A	GRCh37
NC_000006.10:g.43595889G>A	NCBI36
NG_028283.1:g.8135G>A
NG_028283.3:g.15472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.490G>A	ENSP00000496683.1:p.Val164Met
ENST00000642195.1:c.490G>A MANE Select	ENSP00000496044.1:p.Val164Met
ENST00000643341.1:c.490G>A	ENSP00000496018.1:p.Val164Met
ENST00000643799.1:c.490G>A	ENSP00000494529.1:p.Val164Met
ENST00000645141.1:c.*101G>A	ENSP00000496755.1:n.*101G>A
ENST00000646188.1:c.325G>A	ENSP00000496001.1:p.Val109Met
ENST00000646433.1:c.490G>A	ENSP00000494368.1:p.Val164Met
ENST00000646700.1:c.490G>A	ENSP00000495521.1:p.Val164Met
ENST00000304004.7:c.490G>A	ENSP00000307212.3:p.Val164Met
ENST00000372344.6:c.490G>A	ENSP00000361419.2:p.Val164Met
ENST00000372389.7:c.490G>A	ENSP00000361465.3:p.Val164Met
ENST00000423780.1:c.381-102G>A
ENST00000428025.6:c.325G>A	ENSP00000395401.2:p.Val109Met
ENST00000455605.2:n.694G>A
ENST00000481352.6:n.773G>A
ENST00000488601.6:n.729G>A
NM_203290.2:c.490G>A	NP_976035.1:p.Val164Met
XM_005249491.1:c.490G>A	XP_005249548.1:p.Val164Met
XM_011515000.1:c.490G>A	XP_011513302.1:p.Val164Met
NM_001318876.1:c.490G>A	NP_001305805.1:p.Val164Met
NM_001363658.1:c.490G>A	NP_001350587.1:p.Val164Met
NM_203290.3:c.490G>A	NP_976035.1:p.Val164Met
NM_203290.4:c.490G>A MANE Select	NP_976035.1:p.Val164Met
NM_001363658.2:c.490G>A	NP_001350587.1:p.Val164Met
NM_001318876.2:c.490G>A	NP_001305805.1:p.Val164Met