Canonical Allele Identifier: CA5831196
Gene: RRM1 HGNC NCBI
COSMIC:
COSM3998403 (not active)
MyVariant.info:
GRCh38 chr11:g.4138236G>A
GRCh37 chr11:g.4159466G>A
gnomAD v2:
11:4159466 G / A
gnomAD v3:
11:4138236 G / A
gnomAD v4:
chr11-4138236-G-A
Joint Max Group AF 0.93578624 (SAS)
Genomes Max Group AF 0.92508476 (NFE)
Exomes Max Group AF 0.93610715 (SAS)
dbSNP:
1042858
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4138236G>A , CM000673.2:g.4138236G>A GRCh38
NC_000011.9:g.4159466G>A , CM000673.1:g.4159466G>A GRCh37
NC_000011.8:g.4116042G>A NCBI36
NG_027992.2:g.48543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300738.10:c.2232G>A MANE Select ENSP00000300738.5:p.Ala744=
ENST00000300738.9:c.2232G>A ENSP00000300738.5:p.Ala744=
ENST00000532170.5:c.*2108G>A ENSP00000435656.1:n.*2108G>A
ENST00000533349.5:c.*1940G>A ENSP00000434069.1:n.*1940G>A
ENST00000533495.5:c.*1380G>A ENSP00000436377.1:n.*1380G>A
ENST00000534285.5:c.1566G>A ENSP00000431464.1:p.Ala522=
NM_001033.3:c.2232G>A NP_001024.1:p.Ala744=
XM_011520277.1:c.1941G>A XP_011518579.1:p.Ala647=
XM_011520278.1:c.1566G>A XP_011518580.1:p.Ala522=
XM_011520279.1:c.1218G>A XP_011518581.1:p.Ala406=
NM_001033.4:c.2232G>A NP_001024.1:p.Ala744=
NM_001318064.1:c.1941G>A NP_001304993.1:p.Ala647=
NM_001318065.1:c.1218G>A NP_001304994.1:p.Ala406=
NM_001330193.1:c.1566G>A NP_001317122.1:p.Ala522=
NM_001033.5:c.2232G>A MANE Select NP_001024.1:p.Ala744=
Search 100 bp 5'
Search 100 bp 3'