Canonical Allele Identifier: CA364283103

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 548465
• ClinVar RCV Id: RCV000661923 ; RCV000661924
• dbSNP Id: rs1554131502
• MyVariant Identifiers: chr6:g.43487558T>A (hg19) ; chr6:g.43519820T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519820T>A , CM000668.2:g.43519820T>A	GRCh38
NC_000006.11:g.43487558T>A , CM000668.1:g.43487558T>A	GRCh37
NC_000006.10:g.43595536T>A	NCBI36
NG_028283.1:g.7782T>A
NG_028283.3:g.15119T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.364T>A	ENSP00000496683.1:p.Phe122Ile
ENST00000642195.1:c.364T>A MANE Select	ENSP00000496044.1:p.Phe122Ile
ENST00000643341.1:c.364T>A	ENSP00000496018.1:p.Phe122Ile
ENST00000643799.1:c.364T>A	ENSP00000494529.1:p.Phe122Ile
ENST00000645141.1:c.364T>A	ENSP00000496755.1:p.Phe122Ile
ENST00000646188.1:c.199T>A	ENSP00000496001.1:p.Phe67Ile
ENST00000646433.1:c.364T>A	ENSP00000494368.1:p.Phe122Ile
ENST00000646700.1:c.364T>A	ENSP00000495521.1:p.Phe122Ile
ENST00000304004.7:c.364T>A	ENSP00000307212.3:p.Phe122Ile
ENST00000372344.6:c.364T>A	ENSP00000361419.2:p.Phe122Ile
ENST00000372389.7:c.364T>A	ENSP00000361465.3:p.Phe122Ile
ENST00000423780.1:c.362T>A
ENST00000428025.6:c.199T>A	ENSP00000395401.2:p.Phe67Ile
ENST00000455605.2:n.341T>A
ENST00000481352.6:n.420T>A
ENST00000488601.6:n.376T>A
NM_203290.2:c.364T>A	NP_976035.1:p.Phe122Ile
XM_005249491.1:c.364T>A	XP_005249548.1:p.Phe122Ile
XM_011515000.1:c.364T>A	XP_011513302.1:p.Phe122Ile
NM_001318876.1:c.364T>A	NP_001305805.1:p.Phe122Ile
NM_001363658.1:c.364T>A	NP_001350587.1:p.Phe122Ile
NM_203290.3:c.364T>A	NP_976035.1:p.Phe122Ile
NM_203290.4:c.364T>A MANE Select	NP_976035.1:p.Phe122Ile
NM_001363658.2:c.364T>A	NP_001350587.1:p.Phe122Ile
NM_001318876.2:c.364T>A	NP_001305805.1:p.Phe122Ile