Canonical Allele Identifier: CA379186812

Gene: RRM1

Linked Data

• MyVariant Identifiers: chr11:g.4159479C>A (hg19) ; chr11:g.4138249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4138249C>A , CM000673.2:g.4138249C>A	GRCh38
NC_000011.9:g.4159479C>A , CM000673.1:g.4159479C>A	GRCh37
NC_000011.8:g.4116055C>A	NCBI36
NG_027992.2:g.48556C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300738.10:c.2245C>A MANE Select	ENSP00000300738.5:p.Gln749Lys
ENST00000300738.9:c.2245C>A	ENSP00000300738.5:p.Gln749Lys
ENST00000532170.5:c.*2121C>A	ENSP00000435656.1:n.*2121C>A
ENST00000533349.5:c.*1953C>A	ENSP00000434069.1:n.*1953C>A
ENST00000533495.5:c.*1393C>A	ENSP00000436377.1:n.*1393C>A
ENST00000534285.5:c.1579C>A	ENSP00000431464.1:p.Gln527Lys
NM_001033.3:c.2245C>A	NP_001024.1:p.Gln749Lys
XM_011520277.1:c.1954C>A	XP_011518579.1:p.Gln652Lys
XM_011520278.1:c.1579C>A	XP_011518580.1:p.Gln527Lys
XM_011520279.1:c.1231C>A	XP_011518581.1:p.Gln411Lys
NM_001033.4:c.2245C>A	NP_001024.1:p.Gln749Lys
NM_001318064.1:c.1954C>A	NP_001304993.1:p.Gln652Lys
NM_001318065.1:c.1231C>A	NP_001304994.1:p.Gln411Lys
NM_001330193.1:c.1579C>A	NP_001317122.1:p.Gln527Lys
NM_001033.5:c.2245C>A MANE Select	NP_001024.1:p.Gln749Lys