Canonical Allele Identifier: CA138324444

Gene: POLR1C

Linked Data

• dbSNP Id: rs1022865475
• gnomAD v2: 6-43488421-C-T
• gnomAD v3: 6-43520683-C-T
• gnomAD v4: 6-43520683-C-T
• MyVariant Identifiers: chr6:g.43488421C>T (hg19) ; chr6:g.43520683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520683C>T , CM000668.2:g.43520683C>T	GRCh38
NC_000006.11:g.43488421C>T , CM000668.1:g.43488421C>T	GRCh37
NC_000006.10:g.43596399C>T	NCBI36
NG_028283.1:g.8645C>T
NG_028283.3:g.15982C>T
NG_051658.1:g.60393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.714C>T	ENSP00000496683.1:p.Asp238=
ENST00000642195.1:c.714C>T MANE Select	ENSP00000496044.1:p.Asp238=
ENST00000643341.1:c.714C>T	ENSP00000496018.1:p.Asp238=
ENST00000643799.1:c.656-249C>T	ENSP00000494529.1:n.656-249C>T
ENST00000645141.1:c.*325C>T	ENSP00000496755.1:n.*325C>T
ENST00000646188.1:c.549C>T	ENSP00000496001.1:p.Asp183=
ENST00000646433.1:c.714C>T	ENSP00000494368.1:p.Asp238=
ENST00000646700.1:c.714C>T	ENSP00000495521.1:p.Asp238=
ENST00000304004.7:c.714C>T	ENSP00000307212.3:p.Asp238=
ENST00000372344.6:c.656-249C>T	ENSP00000361419.2:n.656-249C>T
ENST00000372389.7:c.714C>T	ENSP00000361465.3:p.Asp238=
ENST00000455605.2:n.1204C>T
ENST00000481352.6:n.1086C>T
ENST00000488601.6:n.953C>T
NM_203290.2:c.714C>T	NP_976035.1:p.Asp238=
XM_005249491.1:c.714C>T	XP_005249548.1:p.Asp238=
XM_011515000.1:c.714C>T	XP_011513302.1:p.Asp238=
NM_001318876.1:c.714C>T	NP_001305805.1:p.Asp238=
NM_001363658.1:c.714C>T	NP_001350587.1:p.Asp238=
NM_203290.3:c.714C>T	NP_976035.1:p.Asp238=
NM_203290.4:c.714C>T MANE Select	NP_976035.1:p.Asp238=
NM_001363658.2:c.714C>T	NP_001350587.1:p.Asp238=
NM_001318876.2:c.714C>T	NP_001305805.1:p.Asp238=