Canonical Allele Identifier: CA364284453

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43520661-C-G
• MyVariant Identifiers: chr6:g.43488399C>G (hg19) ; chr6:g.43520661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520661C>G , CM000668.2:g.43520661C>G	GRCh38
NC_000006.11:g.43488399C>G , CM000668.1:g.43488399C>G	GRCh37
NC_000006.10:g.43596377C>G	NCBI36
NG_028283.1:g.8623C>G
NG_028283.3:g.15960C>G
NG_051658.1:g.60415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.692C>G	ENSP00000496683.1:p.Ala231Gly
ENST00000642195.1:c.692C>G MANE Select	ENSP00000496044.1:p.Ala231Gly
ENST00000643341.1:c.692C>G	ENSP00000496018.1:p.Ala231Gly
ENST00000643799.1:c.655+234C>G	ENSP00000494529.1:n.655+234C>G
ENST00000645141.1:c.*303C>G	ENSP00000496755.1:n.*303C>G
ENST00000646188.1:c.527C>G	ENSP00000496001.1:p.Ala176Gly
ENST00000646433.1:c.692C>G	ENSP00000494368.1:p.Ala231Gly
ENST00000646700.1:c.692C>G	ENSP00000495521.1:p.Ala231Gly
ENST00000304004.7:c.692C>G	ENSP00000307212.3:p.Ala231Gly
ENST00000372344.6:c.655+234C>G	ENSP00000361419.2:n.655+234C>G
ENST00000372389.7:c.692C>G	ENSP00000361465.3:p.Ala231Gly
ENST00000455605.2:n.1182C>G
ENST00000481352.6:n.1064C>G
ENST00000488601.6:n.931C>G
NM_203290.2:c.692C>G	NP_976035.1:p.Ala231Gly
XM_005249491.1:c.692C>G	XP_005249548.1:p.Ala231Gly
XM_011515000.1:c.692C>G	XP_011513302.1:p.Ala231Gly
NM_001318876.1:c.692C>G	NP_001305805.1:p.Ala231Gly
NM_001363658.1:c.692C>G	NP_001350587.1:p.Ala231Gly
NM_203290.3:c.692C>G	NP_976035.1:p.Ala231Gly
NM_203290.4:c.692C>G MANE Select	NP_976035.1:p.Ala231Gly
NM_001363658.2:c.692C>G	NP_001350587.1:p.Ala231Gly
NM_001318876.2:c.692C>G	NP_001305805.1:p.Ala231Gly