Canonical Allele Identifier: CA16602623

Gene: CSF1R

Linked Data

• ClinVar Variation Id: 376166
• ClinVar RCV Id: RCV000430977 ; RCV000440400
• dbSNP Id: rs1057519802
• COSMIC: COSM29145
• MyVariant Identifiers: chr5:g.149441328A>C (hg19) ; chr5:g.150061765A>C (hg38)
• PubMed: PMID:18971950

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150061765A>C , CM000667.2:g.150061765A>C	GRCh38
NC_000005.9:g.149441328A>C , CM000667.1:g.149441328A>C	GRCh37
NC_000005.8:g.149421521A>C	NCBI36
NG_012303.1:g.56608T>G
NG_012303.2:g.56608T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.1711T>G MANE Select	ENSP00000501699.1:p.Tyr571Asp
ENST00000286301.7:c.1711T>G	ENSP00000286301.3:p.Tyr571Asp
ENST00000504875.5:c.1711T>G	ENSP00000422212.1:p.Tyr571Asp
ENST00000513609.1:n.241T>G
ENST00000515239.5:n.241T>G
NM_001288705.1:c.1711T>G	NP_001275634.1:p.Tyr571Asp
NM_005211.3:c.1711T>G	NP_005202.2:p.Tyr571Asp
NR_109969.1:n.1924T>G
NM_001288705.2:c.1711T>G	NP_001275634.1:p.Tyr571Asp
NM_001349736.1:c.1711T>G	NP_001336665.1:p.Tyr571Asp
NM_001288705.3:c.1711T>G MANE Select	NP_001275634.1:p.Tyr571Asp
NM_001375320.1:c.1711T>G	NP_001362249.1:p.Tyr571Asp
NM_001375321.1:c.1267T>G	NP_001362250.1:p.Tyr423Asp
NR_164679.1:n.1767T>G
NM_001349736.2:c.1711T>G	NP_001336665.1:p.Tyr571Asp
NM_005211.4:c.1711T>G	NP_005202.2:p.Tyr571Asp
NR_109969.2:n.1838T>G