Canonical Allele Identifier: CA379186814

Gene: RRM1

Linked Data

• gnomAD v4: 11-4138249-C-T
• MyVariant Identifiers: chr11:g.4159479C>T (hg19) ; chr11:g.4138249C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000300738.10:c.2245C>T MANE Select	ENSP00000300738.5:p.Gln749Ter
ENST00000300738.9:c.2245C>T	ENSP00000300738.5:p.Gln749Ter
ENST00000532170.5:c.*2121C>T	ENSP00000435656.1:n.*2121C>T
ENST00000533349.5:c.*1953C>T	ENSP00000434069.1:n.*1953C>T
ENST00000533495.5:c.*1393C>T	ENSP00000436377.1:n.*1393C>T
ENST00000534285.5:c.1579C>T	ENSP00000431464.1:p.Gln527Ter
NM_001033.3:c.2245C>T	NP_001024.1:p.Gln749Ter
XM_011520277.1:c.1954C>T	XP_011518579.1:p.Gln652Ter
XM_011520278.1:c.1579C>T	XP_011518580.1:p.Gln527Ter
XM_011520279.1:c.1231C>T	XP_011518581.1:p.Gln411Ter
NM_001033.4:c.2245C>T	NP_001024.1:p.Gln749Ter
NM_001318064.1:c.1954C>T	NP_001304993.1:p.Gln652Ter
NM_001318065.1:c.1231C>T	NP_001304994.1:p.Gln411Ter
NM_001330193.1:c.1579C>T	NP_001317122.1:p.Gln527Ter
NM_001033.5:c.2245C>T MANE Select	NP_001024.1:p.Gln749Ter