Canonical Allele Identifier: CA347545319

Gene: POLR1A

Linked Data

• MyVariant Identifiers: chr2:g.86257357C>T (hg19) ; chr2:g.86030234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030234C>T , CM000664.2:g.86030234C>T	GRCh38
NC_000002.11:g.86257357C>T , CM000664.1:g.86257357C>T	GRCh37
NC_000002.10:g.86110868C>T	NCBI36
NG_050742.2:g.80922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4741G>A MANE Select	ENSP00000263857.6:p.Glu1581Lys
ENST00000263857.10:c.4741G>A	ENSP00000263857.6:p.Glu1581Lys
ENST00000409681.1:c.4558G>A	ENSP00000386300.1:p.Glu1520Lys
NM_015425.3:c.4741G>A	NP_056240.2:p.Glu1581Lys
XM_006711983.2:c.4417G>A	XP_006712046.1:p.Glu1473Lys
NM_015425.5:c.4741G>A	NP_056240.2:p.Glu1581Lys
NM_015425.6:c.4741G>A MANE Select	NP_056240.2:p.Glu1581Lys