Canonical Allele Identifier: CA347545336

Gene: POLR1A

Linked Data

• MyVariant Identifiers: chr2:g.86257365A>T (hg19) ; chr2:g.86030242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030242A>T , CM000664.2:g.86030242A>T	GRCh38
NC_000002.11:g.86257365A>T , CM000664.1:g.86257365A>T	GRCh37
NC_000002.10:g.86110876A>T	NCBI36
NG_050742.2:g.80914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4733T>A MANE Select	ENSP00000263857.6:p.Leu1578Gln
ENST00000263857.10:c.4733T>A	ENSP00000263857.6:p.Leu1578Gln
ENST00000409681.1:c.4550T>A	ENSP00000386300.1:p.Leu1517Gln
NM_015425.3:c.4733T>A	NP_056240.2:p.Leu1578Gln
XM_006711983.2:c.4409T>A	XP_006712046.1:p.Leu1470Gln
NM_015425.5:c.4733T>A	NP_056240.2:p.Leu1578Gln
NM_015425.6:c.4733T>A MANE Select	NP_056240.2:p.Leu1578Gln