Canonical Allele Identifier: CA3825555

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 635149
• ClinVar RCV Id: RCV000788031 ; RCV001856207
• dbSNP Id: rs772343871
• ExAC: 6:43488440 G / A
• gnomAD v2: 6-43488440-G-A
• gnomAD v3: 6-43520702-G-A
• gnomAD v4: 6-43520702-G-A
• MyVariant Identifiers: chr6:g.43488440G>A (hg19) ; chr6:g.43520702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520702G>A , CM000668.2:g.43520702G>A	GRCh38
NC_000006.11:g.43488440G>A , CM000668.1:g.43488440G>A	GRCh37
NC_000006.10:g.43596418G>A	NCBI36
NG_028283.1:g.8664G>A
NG_028283.3:g.16001G>A
NG_051658.1:g.60374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.733G>A	ENSP00000496683.1:p.Val245Met
ENST00000642195.1:c.733G>A MANE Select	ENSP00000496044.1:p.Val245Met
ENST00000643341.1:c.733G>A	ENSP00000496018.1:p.Val245Met
ENST00000643799.1:c.656-230G>A	ENSP00000494529.1:n.656-230G>A
ENST00000645141.1:c.*344G>A	ENSP00000496755.1:n.*344G>A
ENST00000646188.1:c.568G>A	ENSP00000496001.1:p.Val190Met
ENST00000646433.1:c.733G>A	ENSP00000494368.1:p.Val245Met
ENST00000646700.1:c.733G>A	ENSP00000495521.1:p.Val245Met
ENST00000304004.7:c.733G>A	ENSP00000307212.3:p.Val245Met
ENST00000372344.6:c.656-230G>A	ENSP00000361419.2:n.656-230G>A
ENST00000372389.7:c.733G>A	ENSP00000361465.3:p.Val245Met
ENST00000455605.2:n.1223G>A
ENST00000481352.6:n.1105G>A
ENST00000488601.6:n.972G>A
NM_203290.2:c.733G>A	NP_976035.1:p.Val245Met
XM_005249491.1:c.733G>A	XP_005249548.1:p.Val245Met
XM_011515000.1:c.733G>A	XP_011513302.1:p.Val245Met
NM_001318876.1:c.733G>A	NP_001305805.1:p.Val245Met
NM_001363658.1:c.733G>A	NP_001350587.1:p.Val245Met
NM_203290.3:c.733G>A	NP_976035.1:p.Val245Met
NM_203290.4:c.733G>A MANE Select	NP_976035.1:p.Val245Met
NM_001363658.2:c.733G>A	NP_001350587.1:p.Val245Met
NM_001318876.2:c.733G>A	NP_001305805.1:p.Val245Met