Canonical Allele Identifier: CA3506731
Community Standard Title: NM_001288705.3(CSF1R):c.1716C>T (p.Asn572=)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150061760G>A , CM000667.2:g.150061760G>A GRCh38
NC_000005.9:g.149441323G>A , CM000667.1:g.149441323G>A GRCh37
NC_000005.8:g.149421516G>A NCBI36
NG_012303.1:g.56613C>T
NG_012303.2:g.56613C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.1716C>T MANE Select NP_001275634.1:p.Asn572=
ENST00000675795.1:c.1716C>T MANE Select ENSP00000501699.1:p.Asn572=
NM_001288705.1:c.1716C>T NP_001275634.1:p.Asn572=
NM_001288705.2:c.1716C>T NP_001275634.1:p.Asn572=
NM_001349736.1:c.1716C>T NP_001336665.1:p.Asn572=
NM_001349736.2:c.1716C>T NP_001336665.1:p.Asn572=
NM_001375320.1:c.1716C>T NP_001362249.1:p.Asn572=
NM_001375321.1:c.1272C>T NP_001362250.1:p.Asn424=
NM_005211.3:c.1716C>T NP_005202.2:p.Asn572=
NM_005211.4:c.1716C>T NP_005202.2:p.Asn572=
NR_109969.1:n.1929C>T
NR_109969.2:n.1843C>T
NR_164679.1:n.1772C>T
ENST00000286301.7:c.1716C>T ENSP00000286301.3:p.Asn572=
ENST00000504875.5:c.1716C>T ENSP00000422212.1:p.Asn572=
ENST00000513609.1:n.246C>T
ENST00000515239.5:n.246C>T