Canonical Allele Identifier: CA472543032
Gene: RRM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.4159466G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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