Canonical Allele Identifier: CA347545569

Gene: POLR1A

Linked Data

• MyVariant Identifiers: chr2:g.86257478C>T (hg19) ; chr2:g.86030355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030355C>T , CM000664.2:g.86030355C>T	GRCh38
NC_000002.11:g.86257478C>T , CM000664.1:g.86257478C>T	GRCh37
NC_000002.10:g.86110989C>T	NCBI36
NG_050742.2:g.80801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4620G>A MANE Select	ENSP00000263857.6:p.Met1540Ile
ENST00000263857.10:c.4620G>A	ENSP00000263857.6:p.Met1540Ile
ENST00000409681.1:c.4437G>A	ENSP00000386300.1:p.Met1479Ile
NM_015425.3:c.4620G>A	NP_056240.2:p.Met1540Ile
XM_006711983.2:c.4296G>A	XP_006712046.1:p.Met1432Ile
NM_015425.5:c.4620G>A	NP_056240.2:p.Met1540Ile
NM_015425.6:c.4620G>A MANE Select	NP_056240.2:p.Met1540Ile