Canonical Allele Identifier: CA3506333
Community Standard Title: NM_001288705.3(CSF1R):c.2796C>T (p.Ser932=)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150054192G>A , CM000667.2:g.150054192G>A GRCh38
NC_000005.9:g.149433755G>A , CM000667.1:g.149433755G>A GRCh37
NC_000005.8:g.149413948G>A NCBI36
NG_012303.1:g.64181C>T
NG_021389.1:g.58587G>A
NG_012303.2:g.64181C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.2796C>T MANE Select NP_001275634.1:p.Ser932=
ENST00000675795.1:c.2796C>T MANE Select ENSP00000501699.1:p.Ser932=
NM_001288705.1:c.2796C>T NP_001275634.1:p.Ser932=
NM_001288705.2:c.2796C>T NP_001275634.1:p.Ser932=
NM_001349736.1:c.2796C>T NP_001336665.1:p.Ser932=
NM_001349736.2:c.2796C>T NP_001336665.1:p.Ser932=
NM_001375320.1:c.2796C>T NP_001362249.1:p.Ser932=
NM_001375321.1:c.2352C>T NP_001362250.1:p.Ser784=
NM_005211.3:c.2796C>T NP_005202.2:p.Ser932=
NM_005211.4:c.2796C>T NP_005202.2:p.Ser932=
NR_109969.1:n.2846C>T
NR_109969.2:n.2760C>T
NR_164679.1:n.2689C>T
ENST00000286301.7:c.2796C>T ENSP00000286301.3:p.Ser932=
ENST00000504875.5:c.*617C>T ENSP00000422212.1:n.*617C>T
ENST00000509861.1:n.532C>T