Canonical Allele Identifier: CA379186802

Gene: RRM1

Linked Data

• gnomAD v3: 11-4138244-C-A
• gnomAD v4: 11-4138244-C-A
• MyVariant Identifiers: chr11:g.4159474C>A (hg19) ; chr11:g.4138244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4138244C>A , CM000673.2:g.4138244C>A	GRCh38
NC_000011.9:g.4159474C>A , CM000673.1:g.4159474C>A	GRCh37
NC_000011.8:g.4116050C>A	NCBI36
NG_027992.2:g.48551C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300738.10:c.2240C>A MANE Select	ENSP00000300738.5:p.Pro747Gln
ENST00000300738.9:c.2240C>A	ENSP00000300738.5:p.Pro747Gln
ENST00000532170.5:c.*2116C>A	ENSP00000435656.1:n.*2116C>A
ENST00000533349.5:c.*1948C>A	ENSP00000434069.1:n.*1948C>A
ENST00000533495.5:c.*1388C>A	ENSP00000436377.1:n.*1388C>A
ENST00000534285.5:c.1574C>A	ENSP00000431464.1:p.Pro525Gln
NM_001033.3:c.2240C>A	NP_001024.1:p.Pro747Gln
XM_011520277.1:c.1949C>A	XP_011518579.1:p.Pro650Gln
XM_011520278.1:c.1574C>A	XP_011518580.1:p.Pro525Gln
XM_011520279.1:c.1226C>A	XP_011518581.1:p.Pro409Gln
NM_001033.4:c.2240C>A	NP_001024.1:p.Pro747Gln
NM_001318064.1:c.1949C>A	NP_001304993.1:p.Pro650Gln
NM_001318065.1:c.1226C>A	NP_001304994.1:p.Pro409Gln
NM_001330193.1:c.1574C>A	NP_001317122.1:p.Pro525Gln
NM_001033.5:c.2240C>A MANE Select	NP_001024.1:p.Pro747Gln