Canonical Allele Identifier: CA361760042

Gene: CSF1R

Linked Data

• MyVariant Identifiers: chr5:g.149436885C>T (hg19) ; chr5:g.150057322C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150057322C>T , CM000667.2:g.150057322C>T	GRCh38
NC_000005.9:g.149436885C>T , CM000667.1:g.149436885C>T	GRCh37
NC_000005.8:g.149417078C>T	NCBI36
NG_012303.1:g.61051G>A
NG_012303.2:g.61051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.2284G>A MANE Select	ENSP00000501699.1:p.Val762Ile
ENST00000286301.7:c.2284G>A	ENSP00000286301.3:p.Val762Ile
ENST00000504875.5:c.*105G>A	ENSP00000422212.1:n.*105G>A
ENST00000515068.1:c.453G>A	ENSP00000427545.1:n.453G>A
NM_001288705.1:c.2284G>A	NP_001275634.1:p.Val762Ile
NM_005211.3:c.2284G>A	NP_005202.2:p.Val762Ile
NR_109969.1:n.2334G>A
NM_001288705.2:c.2284G>A	NP_001275634.1:p.Val762Ile
NM_001349736.1:c.2284G>A	NP_001336665.1:p.Val762Ile
NM_001288705.3:c.2284G>A MANE Select	NP_001275634.1:p.Val762Ile
NM_001375320.1:c.2284G>A	NP_001362249.1:p.Val762Ile
NM_001375321.1:c.1840G>A	NP_001362250.1:p.Val614Ile
NR_164679.1:n.2177G>A
NM_001349736.2:c.2284G>A	NP_001336665.1:p.Val762Ile
NM_005211.4:c.2284G>A	NP_005202.2:p.Val762Ile
NR_109969.2:n.2248G>A