Canonical Allele Identifier: CA361714181
Community Standard Title: NM_001288705.3(CSF1R):c.1765G>C (p.Gly589Arg)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150061584C>G , CM000667.2:g.150061584C>G GRCh38
NC_000005.9:g.149441147C>G , CM000667.1:g.149441147C>G GRCh37
NC_000005.8:g.149421340C>G NCBI36
NG_012303.1:g.56789G>C
NG_012303.2:g.56789G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.1765G>C MANE Select NP_001275634.1:p.Gly589Arg
ENST00000675795.1:c.1765G>C MANE Select ENSP00000501699.1:p.Gly589Arg
NM_001288705.1:c.1765G>C NP_001275634.1:p.Gly589Arg
NM_001288705.2:c.1765G>C NP_001275634.1:p.Gly589Arg
NM_001349736.1:c.1765G>C NP_001336665.1:p.Gly589Arg
NM_001349736.2:c.1765G>C NP_001336665.1:p.Gly589Arg
NM_001375320.1:c.1765G>C NP_001362249.1:p.Gly589Arg
NM_001375321.1:c.1321G>C NP_001362250.1:p.Gly441Arg
NM_005211.3:c.1765G>C NP_005202.2:p.Gly589Arg
NM_005211.4:c.1765G>C NP_005202.2:p.Gly589Arg
NR_109969.1:n.1978G>C
NR_109969.2:n.1892G>C
NR_164679.1:n.1821G>C
ENST00000286301.7:c.1765G>C ENSP00000286301.3:p.Gly589Arg
ENST00000504875.5:c.1765G>C ENSP00000422212.1:p.Gly589Arg
ENST00000513609.1:n.422G>C
ENST00000515068.1:c.73+12G>C ENSP00000427545.1:n.73+12G>C
ENST00000515239.5:n.295G>C