Canonical Allele Identifier: CA364280060

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 2585390
• ClinVar RCV Id: RCV003338006 ; RCV003387551
• dbSNP Id: rs1057519455
• gnomAD v4: 6-43517324-C-G
• MyVariant Identifiers: chr6:g.43485062C>G (hg19) ; chr6:g.43517324C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43517324C>G , CM000668.2:g.43517324C>G	GRCh38
NC_000006.11:g.43485062C>G , CM000668.1:g.43485062C>G	GRCh37
NC_000006.10:g.43593040C>G	NCBI36
NG_028283.1:g.5286C>G
NG_028283.3:g.12623C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000607635.2:c.88C>G	ENSP00000496683.1:p.Pro30Ala
ENST00000642195.1:c.88C>G MANE Select	ENSP00000496044.1:p.Pro30Ala
ENST00000643341.1:c.88C>G	ENSP00000496018.1:p.Pro30Ala
ENST00000643799.1:c.88C>G	ENSP00000494529.1:p.Pro30Ala
ENST00000645141.1:c.88C>G	ENSP00000496755.1:p.Pro30Ala
ENST00000646188.1:c.-78C>G	ENSP00000496001.1:n.-78C>G
ENST00000646433.1:c.88C>G	ENSP00000494368.1:p.Pro30Ala
ENST00000646700.1:c.88C>G	ENSP00000495521.1:p.Pro30Ala
ENST00000304004.7:c.88C>G	ENSP00000307212.3:p.Pro30Ala
ENST00000372344.6:c.88C>G	ENSP00000361419.2:p.Pro30Ala
ENST00000372389.7:c.88C>G	ENSP00000361465.3:p.Pro30Ala
ENST00000423780.1:c.86C>G
ENST00000428025.6:c.-78C>G	ENSP00000395401.2:n.-78C>G
ENST00000455605.2:n.65C>G
ENST00000481352.6:n.144C>G
ENST00000488601.6:n.100C>G
ENST00000512472.5:n.115C>G
NM_203290.2:c.88C>G	NP_976035.1:p.Pro30Ala
XM_005249491.1:c.88C>G	XP_005249548.1:p.Pro30Ala
XM_011515000.1:c.88C>G	XP_011513302.1:p.Pro30Ala
NM_001318876.1:c.88C>G	NP_001305805.1:p.Pro30Ala
NM_001363658.1:c.88C>G	NP_001350587.1:p.Pro30Ala
NM_203290.3:c.88C>G	NP_976035.1:p.Pro30Ala
NM_203290.4:c.88C>G MANE Select	NP_976035.1:p.Pro30Ala
NM_001363658.2:c.88C>G	NP_001350587.1:p.Pro30Ala
NM_001318876.2:c.88C>G	NP_001305805.1:p.Pro30Ala