Canonical Allele Identifier: CA1590772978
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150057381A= , CM000667.2:g.150057381A= GRCh38
NC_000005.9:g.149436944A= , CM000667.1:g.149436944A= GRCh37
NC_000005.8:g.149417137A= NCBI36
NG_012303.1:g.60992T=
NG_012303.2:g.60992T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000675795.1:c.2225T= MANE Select ENSP00000501699.1:p.Leu742=
ENST00000286301.7:c.2225T= ENSP00000286301.3:p.Leu742=
ENST00000504875.5:c.*46T= ENSP00000422212.1:n.*46T=
ENST00000515068.1:c.394T= ENSP00000427545.1:n.394T=
NM_001288705.1:c.2225T= NP_001275634.1:p.Leu742=
NM_005211.3:c.2225T= NP_005202.2:p.Leu742=
NR_109969.1:n.2275T=
NM_001288705.2:c.2225T= NP_001275634.1:p.Leu742=
NM_001349736.1:c.2225T= NP_001336665.1:p.Leu742=
NM_001288705.3:c.2225T= MANE Select NP_001275634.1:p.Leu742=
NM_001375320.1:c.2225T= NP_001362249.1:p.Leu742=
NM_001375321.1:c.1781T= NP_001362250.1:p.Leu594=
NR_164679.1:n.2118T=
NM_001349736.2:c.2225T= NP_001336665.1:p.Leu742=
NM_005211.4:c.2225T= NP_005202.2:p.Leu742=
NR_109969.2:n.2189T=