Canonical Allele Identifier: CA379186798

Gene: RRM1

Linked Data

• MyVariant Identifiers: chr11:g.4159472T>G (hg19) ; chr11:g.4138242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4138242T>G , CM000673.2:g.4138242T>G	GRCh38
NC_000011.9:g.4159472T>G , CM000673.1:g.4159472T>G	GRCh37
NC_000011.8:g.4116048T>G	NCBI36
NG_027992.2:g.48549T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300738.10:c.2238T>G MANE Select	ENSP00000300738.5:p.Asn746Lys
ENST00000300738.9:c.2238T>G	ENSP00000300738.5:p.Asn746Lys
ENST00000532170.5:c.*2114T>G	ENSP00000435656.1:n.*2114T>G
ENST00000533349.5:c.*1946T>G	ENSP00000434069.1:n.*1946T>G
ENST00000533495.5:c.*1386T>G	ENSP00000436377.1:n.*1386T>G
ENST00000534285.5:c.1572T>G	ENSP00000431464.1:p.Asn524Lys
NM_001033.3:c.2238T>G	NP_001024.1:p.Asn746Lys
XM_011520277.1:c.1947T>G	XP_011518579.1:p.Asn649Lys
XM_011520278.1:c.1572T>G	XP_011518580.1:p.Asn524Lys
XM_011520279.1:c.1224T>G	XP_011518581.1:p.Asn408Lys
NM_001033.4:c.2238T>G	NP_001024.1:p.Asn746Lys
NM_001318064.1:c.1947T>G	NP_001304993.1:p.Asn649Lys
NM_001318065.1:c.1224T>G	NP_001304994.1:p.Asn408Lys
NM_001330193.1:c.1572T>G	NP_001317122.1:p.Asn524Lys
NM_001033.5:c.2238T>G MANE Select	NP_001024.1:p.Asn746Lys