Canonical Allele Identifier: CA361714168
Community Standard Title: NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150061577C>T , CM000667.2:g.150061577C>T GRCh38
NC_000005.9:g.149441140C>T , CM000667.1:g.149441140C>T GRCh37
NC_000005.8:g.149421333C>T NCBI36
NG_012303.1:g.56796G>A
NG_012303.2:g.56796G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.1772G>A MANE Select NP_001275634.1:p.Gly591Glu
ENST00000675795.1:c.1772G>A MANE Select ENSP00000501699.1:p.Gly591Glu
NM_001288705.1:c.1772G>A NP_001275634.1:p.Gly591Glu
NM_001288705.2:c.1772G>A NP_001275634.1:p.Gly591Glu
NM_001349736.1:c.1772G>A NP_001336665.1:p.Gly591Glu
NM_001349736.2:c.1772G>A NP_001336665.1:p.Gly591Glu
NM_001375320.1:c.1772G>A NP_001362249.1:p.Gly591Glu
NM_001375321.1:c.1328G>A NP_001362250.1:p.Gly443Glu
NM_005211.3:c.1772G>A NP_005202.2:p.Gly591Glu
NM_005211.4:c.1772G>A NP_005202.2:p.Gly591Glu
NR_109969.1:n.1985G>A
NR_109969.2:n.1899G>A
NR_164679.1:n.1828G>A
ENST00000286301.7:c.1772G>A ENSP00000286301.3:p.Gly591Glu
ENST00000504875.5:c.1772G>A ENSP00000422212.1:p.Gly591Glu
ENST00000513609.1:n.429G>A
ENST00000515068.1:c.73+19G>A ENSP00000427545.1:n.73+19G>A
ENST00000515239.5:n.302G>A