Canonical Allele Identifier: CA379207299

Gene: RRM1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4123206G>A , CM000673.2:g.4123206G>A	GRCh38
NC_000011.9:g.4144436G>A , CM000673.1:g.4144436G>A	GRCh37
NC_000011.8:g.4101012G>A	NCBI36
NG_027992.2:g.33513G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001033.5:c.1142G>A MANE Select	NP_001024.1:p.Arg381His
ENST00000300738.10:c.1142G>A MANE Select	ENSP00000300738.5:p.Arg381His
NM_001033.3:c.1142G>A	NP_001024.1:p.Arg381His
NM_001033.4:c.1142G>A	NP_001024.1:p.Arg381His
NM_001318064.1:c.851G>A	NP_001304993.1:p.Arg284His
NM_001318065.1:c.128G>A	NP_001304994.1:p.Arg43His
NM_001330193.1:c.476G>A	NP_001317122.1:p.Arg159His
ENST00000300738.9:c.1142G>A	ENSP00000300738.5:p.Arg381His
ENST00000526304.5:n.450G>A
ENST00000528442.5:c.605G>A
ENST00000528470.5:n.514G>A
ENST00000529109.1:n.136G>A
ENST00000531591.5:n.195G>A
ENST00000532170.5:c.*1018G>A	ENSP00000435656.1:n.*1018G>A
ENST00000533349.5:c.*850G>A	ENSP00000434069.1:n.*850G>A
ENST00000533495.5:c.*290G>A	ENSP00000436377.1:n.*290G>A
ENST00000534285.5:c.476G>A	ENSP00000431464.1:p.Arg159His
XM_011520277.1:c.851G>A	XP_011518579.1:p.Arg284His
XM_011520278.1:c.476G>A	XP_011518580.1:p.Arg159His
XM_011520279.1:c.128G>A	XP_011518581.1:p.Arg43His