Canonical Allele Identifier: CA347545246

Gene: POLR1A

Linked Data

• MyVariant Identifiers: chr2:g.86257325A>T (hg19) ; chr2:g.86030202A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030202A>T , CM000664.2:g.86030202A>T	GRCh38
NC_000002.11:g.86257325A>T , CM000664.1:g.86257325A>T	GRCh37
NC_000002.10:g.86110836A>T	NCBI36
NG_050742.2:g.80954T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4773T>A MANE Select	ENSP00000263857.6:p.Tyr1591Ter
ENST00000263857.10:c.4773T>A	ENSP00000263857.6:p.Tyr1591Ter
ENST00000409681.1:c.4590T>A	ENSP00000386300.1:p.Tyr1530Ter
NM_015425.3:c.4773T>A	NP_056240.2:p.Tyr1591Ter
XM_006711983.2:c.4449T>A	XP_006712046.1:p.Tyr1483Ter
NM_015425.5:c.4773T>A	NP_056240.2:p.Tyr1591Ter
NM_015425.6:c.4773T>A MANE Select	NP_056240.2:p.Tyr1591Ter