Canonical Allele Identifier: CA361757210
Community Standard Title: NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150054386C>T , CM000667.2:g.150054386C>T GRCh38
NC_000005.9:g.149433949C>T , CM000667.1:g.149433949C>T GRCh37
NC_000005.8:g.149414142C>T NCBI36
NG_012303.1:g.63987G>A
NG_021389.1:g.58781C>T
NG_012303.2:g.63987G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.2699G>A MANE Select NP_001275634.1:p.Arg900Lys
ENST00000675795.1:c.2699G>A MANE Select ENSP00000501699.1:p.Arg900Lys
NM_001288705.1:c.2699G>A NP_001275634.1:p.Arg900Lys
NM_001288705.2:c.2699G>A NP_001275634.1:p.Arg900Lys
NM_001349736.1:c.2699G>A NP_001336665.1:p.Arg900Lys
NM_001349736.2:c.2699G>A NP_001336665.1:p.Arg900Lys
NM_001375320.1:c.2699G>A NP_001362249.1:p.Arg900Lys
NM_001375321.1:c.2255G>A NP_001362250.1:p.Arg752Lys
NM_005211.3:c.2699G>A NP_005202.2:p.Arg900Lys
NM_005211.4:c.2699G>A NP_005202.2:p.Arg900Lys
NR_109969.1:n.2749G>A
NR_109969.2:n.2663G>A
NR_164679.1:n.2592G>A
ENST00000286301.7:c.2699G>A ENSP00000286301.3:p.Arg900Lys
ENST00000504875.5:c.*520G>A ENSP00000422212.1:n.*520G>A
ENST00000509861.1:n.435G>A