Canonical Allele Identifier: CA347545436

Gene: POLR1A

Linked Data

• gnomAD v4: 2-86030288-G-A
• MyVariant Identifiers: chr2:g.86257411G>A (hg19) ; chr2:g.86030288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030288G>A , CM000664.2:g.86030288G>A	GRCh38
NC_000002.11:g.86257411G>A , CM000664.1:g.86257411G>A	GRCh37
NC_000002.10:g.86110922G>A	NCBI36
NG_050742.2:g.80868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4687C>T MANE Select	ENSP00000263857.6:p.Leu1563Phe
ENST00000263857.10:c.4687C>T	ENSP00000263857.6:p.Leu1563Phe
ENST00000409681.1:c.4504C>T	ENSP00000386300.1:p.Leu1502Phe
NM_015425.3:c.4687C>T	NP_056240.2:p.Leu1563Phe
XM_006711983.2:c.4363C>T	XP_006712046.1:p.Leu1455Phe
NM_015425.5:c.4687C>T	NP_056240.2:p.Leu1563Phe
NM_015425.6:c.4687C>T MANE Select	NP_056240.2:p.Leu1563Phe