Canonical Allele Identifier: CA5830984

Gene: RRM1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4123205C>T , CM000673.2:g.4123205C>T	GRCh38
NC_000011.9:g.4144435C>T , CM000673.1:g.4144435C>T	GRCh37
NC_000011.8:g.4101011C>T	NCBI36
NG_027992.2:g.33512C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001033.5:c.1141C>T MANE Select	NP_001024.1:p.Arg381Cys
ENST00000300738.10:c.1141C>T MANE Select	ENSP00000300738.5:p.Arg381Cys
NM_001033.3:c.1141C>T	NP_001024.1:p.Arg381Cys
NM_001033.4:c.1141C>T	NP_001024.1:p.Arg381Cys
NM_001318064.1:c.850C>T	NP_001304993.1:p.Arg284Cys
NM_001318065.1:c.127C>T	NP_001304994.1:p.Arg43Cys
NM_001330193.1:c.475C>T	NP_001317122.1:p.Arg159Cys
ENST00000300738.9:c.1141C>T	ENSP00000300738.5:p.Arg381Cys
ENST00000526304.5:n.449C>T
ENST00000528442.5:c.604C>T
ENST00000528470.5:n.513C>T
ENST00000529109.1:n.135C>T
ENST00000531591.5:n.194C>T
ENST00000532170.5:c.*1017C>T	ENSP00000435656.1:n.*1017C>T
ENST00000533349.5:c.*849C>T	ENSP00000434069.1:n.*849C>T
ENST00000533495.5:c.*289C>T	ENSP00000436377.1:n.*289C>T
ENST00000534285.5:c.475C>T	ENSP00000431464.1:p.Arg159Cys
XM_011520277.1:c.850C>T	XP_011518579.1:p.Arg284Cys
XM_011520278.1:c.475C>T	XP_011518580.1:p.Arg159Cys
XM_011520279.1:c.127C>T	XP_011518581.1:p.Arg43Cys