Canonical Allele Identifier: CA361760218

Gene: CSF1R

Linked Data

• MyVariant Identifiers: chr5:g.149436921G>C (hg19) ; chr5:g.150057358G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057358G>C , CM000667.2:g.150057358G>C	GRCh38
NC_000005.9:g.149436921G>C , CM000667.1:g.149436921G>C	GRCh37
NC_000005.8:g.149417114G>C	NCBI36
NG_012303.1:g.61015C>G
NG_012303.2:g.61015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2248C>G MANE Select	ENSP00000501699.1:p.Leu750Val
ENST00000286301.7:c.2248C>G	ENSP00000286301.3:p.Leu750Val
ENST00000504875.5:c.*69C>G	ENSP00000422212.1:n.*69C>G
ENST00000515068.1:c.417C>G	ENSP00000427545.1:n.417C>G
NM_001288705.1:c.2248C>G	NP_001275634.1:p.Leu750Val
NM_005211.3:c.2248C>G	NP_005202.2:p.Leu750Val
NR_109969.1:n.2298C>G
NM_001288705.2:c.2248C>G	NP_001275634.1:p.Leu750Val
NM_001349736.1:c.2248C>G	NP_001336665.1:p.Leu750Val
NM_001288705.3:c.2248C>G MANE Select	NP_001275634.1:p.Leu750Val
NM_001375320.1:c.2248C>G	NP_001362249.1:p.Leu750Val
NM_001375321.1:c.1804C>G	NP_001362250.1:p.Leu602Val
NR_164679.1:n.2141C>G
NM_001349736.2:c.2248C>G	NP_001336665.1:p.Leu750Val
NM_005211.4:c.2248C>G	NP_005202.2:p.Leu750Val
NR_109969.2:n.2212C>G