Canonical Allele Identifier: CA347552036

Gene: POLR1A

Linked Data

• gnomAD v4: 2-86040392-C-A
• MyVariant Identifiers: chr2:g.86267515C>A (hg19) ; chr2:g.86040392C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86040392C>A , CM000664.2:g.86040392C>A	GRCh38
NC_000002.11:g.86267515C>A , CM000664.1:g.86267515C>A	GRCh37
NC_000002.10:g.86121026C>A	NCBI36
NG_050742.2:g.70764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.3740G>T MANE Select	ENSP00000263857.6:p.Arg1247Met
ENST00000263857.10:c.3740G>T	ENSP00000263857.6:p.Arg1247Met
ENST00000409681.1:c.3740G>T	ENSP00000386300.1:p.Arg1247Met
ENST00000462078.1:n.128G>T
NM_015425.3:c.3740G>T	NP_056240.2:p.Arg1247Met
XM_006711983.2:c.3416G>T	XP_006712046.1:p.Arg1139Met
NM_015425.5:c.3740G>T	NP_056240.2:p.Arg1247Met
NM_015425.6:c.3740G>T MANE Select	NP_056240.2:p.Arg1247Met