Canonical Allele Identifier: CA345466
Community Standard Title: NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150056319G>T , CM000667.2:g.150056319G>T GRCh38
NC_000005.9:g.149435882G>T , CM000667.1:g.149435882G>T GRCh37
NC_000005.8:g.149416075G>T NCBI36
NG_012303.1:g.62054C>A
NG_012303.2:g.62054C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.2342C>A MANE Select NP_001275634.1:p.Ala781Glu
ENST00000675795.1:c.2342C>A MANE Select ENSP00000501699.1:p.Ala781Glu
NM_001288705.1:c.2342C>A NP_001275634.1:p.Ala781Glu
NM_001288705.2:c.2342C>A NP_001275634.1:p.Ala781Glu
NM_001349736.1:c.2342C>A NP_001336665.1:p.Ala781Glu
NM_001349736.2:c.2342C>A NP_001336665.1:p.Ala781Glu
NM_001375320.1:c.2342C>A NP_001362249.1:p.Ala781Glu
NM_001375321.1:c.1898C>A NP_001362250.1:p.Ala633Glu
NM_005211.3:c.2342C>A NP_005202.2:p.Ala781Glu
NM_005211.4:c.2342C>A NP_005202.2:p.Ala781Glu
NR_109969.1:n.2392C>A
NR_109969.2:n.2306C>A
NR_164679.1:n.2235C>A
ENST00000286301.7:c.2342C>A ENSP00000286301.3:p.Ala781Glu
ENST00000504875.5:c.*163C>A ENSP00000422212.1:n.*163C>A
ENST00000515068.1:c.511C>A ENSP00000427545.1:n.511C>A