Canonical Allele Identifier: CA361724652

Gene: CSF1R

Linked Data

• MyVariant Identifiers: chr5:g.149452954A>T (hg19) ; chr5:g.150073391A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073391A>T , CM000667.2:g.150073391A>T	GRCh38
NC_000005.9:g.149452954A>T , CM000667.1:g.149452954A>T	GRCh37
NC_000005.8:g.149433147A>T	NCBI36
NG_012303.1:g.44982T>A
NG_012303.2:g.44982T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675795.1:c.992T>A MANE Select	ENSP00000501699.1:p.Leu331Gln
ENST00000286301.7:c.992T>A	ENSP00000286301.3:p.Leu331Gln
ENST00000504875.5:c.992T>A	ENSP00000422212.1:p.Leu331Gln
ENST00000543093.1:c.890-2820T>A	ENSP00000445282.1:n.890-2820T>A
NM_001288705.1:c.992T>A	NP_001275634.1:p.Leu331Gln
NM_005211.3:c.992T>A	NP_005202.2:p.Leu331Gln
NR_109969.1:n.1205T>A
NM_001288705.2:c.992T>A	NP_001275634.1:p.Leu331Gln
NM_001349736.1:c.992T>A	NP_001336665.1:p.Leu331Gln
NM_001288705.3:c.992T>A MANE Select	NP_001275634.1:p.Leu331Gln
NM_001375320.1:c.992T>A	NP_001362249.1:p.Leu331Gln
NM_001375321.1:c.548T>A	NP_001362250.1:p.Leu183Gln
NR_164679.1:n.1048T>A
NM_001349736.2:c.992T>A	NP_001336665.1:p.Leu331Gln
NM_005211.4:c.992T>A	NP_005202.2:p.Leu331Gln
NR_109969.2:n.1119T>A