Canonical Allele Identifier: CA379186808

Gene: RRM1

Linked Data

• MyVariant Identifiers: chr11:g.4159477T>C (hg19) ; chr11:g.4138247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4138247T>C , CM000673.2:g.4138247T>C	GRCh38
NC_000011.9:g.4159477T>C , CM000673.1:g.4159477T>C	GRCh37
NC_000011.8:g.4116053T>C	NCBI36
NG_027992.2:g.48554T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000300738.10:c.2243T>C MANE Select	ENSP00000300738.5:p.Ile748Thr
ENST00000300738.9:c.2243T>C	ENSP00000300738.5:p.Ile748Thr
ENST00000532170.5:c.*2119T>C	ENSP00000435656.1:n.*2119T>C
ENST00000533349.5:c.*1951T>C	ENSP00000434069.1:n.*1951T>C
ENST00000533495.5:c.*1391T>C	ENSP00000436377.1:n.*1391T>C
ENST00000534285.5:c.1577T>C	ENSP00000431464.1:p.Ile526Thr
NM_001033.3:c.2243T>C	NP_001024.1:p.Ile748Thr
XM_011520277.1:c.1952T>C	XP_011518579.1:p.Ile651Thr
XM_011520278.1:c.1577T>C	XP_011518580.1:p.Ile526Thr
XM_011520279.1:c.1229T>C	XP_011518581.1:p.Ile410Thr
NM_001033.4:c.2243T>C	NP_001024.1:p.Ile748Thr
NM_001318064.1:c.1952T>C	NP_001304993.1:p.Ile651Thr
NM_001318065.1:c.1229T>C	NP_001304994.1:p.Ile410Thr
NM_001330193.1:c.1577T>C	NP_001317122.1:p.Ile526Thr
NM_001033.5:c.2243T>C MANE Select	NP_001024.1:p.Ile748Thr