Canonical Allele Identifier: CA1590772425
Community Standard Title: NM_001288705.3(CSF1R):c.2345G= (p.Arg782=)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150056316C= , CM000667.2:g.150056316C= GRCh38
NC_000005.9:g.149435879C= , CM000667.1:g.149435879C= GRCh37
NC_000005.8:g.149416072C= NCBI36
NG_012303.1:g.62057G=
NG_012303.2:g.62057G=

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.2345G= MANE Select NP_001275634.1:p.Arg782=
ENST00000675795.1:c.2345G= MANE Select ENSP00000501699.1:p.Arg782=
NM_001288705.1:c.2345G= NP_001275634.1:p.Arg782=
NM_001288705.2:c.2345G= NP_001275634.1:p.Arg782=
NM_001349736.1:c.2345G= NP_001336665.1:p.Arg782=
NM_001349736.2:c.2345G= NP_001336665.1:p.Arg782=
NM_001375320.1:c.2345G= NP_001362249.1:p.Arg782=
NM_001375321.1:c.1901G= NP_001362250.1:p.Arg634=
NM_005211.3:c.2345G= NP_005202.2:p.Arg782=
NM_005211.4:c.2345G= NP_005202.2:p.Arg782=
NR_109969.1:n.2395G=
NR_109969.2:n.2309G=
NR_164679.1:n.2238G=
ENST00000286301.7:c.2345G= ENSP00000286301.3:p.Arg782=
ENST00000504875.5:c.*166G= ENSP00000422212.1:n.*166G=
ENST00000515068.1:c.514G= ENSP00000427545.1:n.514G=