Canonical Allele Identifier: CA16618138

Gene: CSF1R

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150056130A>T , CM000667.2:g.150056130A>T	GRCh38
NC_000005.9:g.149435693A>T , CM000667.1:g.149435693A>T	GRCh37
NC_000005.8:g.149415886A>T	NCBI36
NG_012303.1:g.62243T>A
NG_012303.2:g.62243T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001288705.3:c.2450T>A MANE Select	NP_001275634.1:p.Leu817Gln
ENST00000675795.1:c.2450T>A MANE Select	ENSP00000501699.1:p.Leu817Gln
NM_001288705.1:c.2450T>A	NP_001275634.1:p.Leu817Gln
NM_001288705.2:c.2450T>A	NP_001275634.1:p.Leu817Gln
NM_001349736.1:c.2450T>A	NP_001336665.1:p.Leu817Gln
NM_001349736.2:c.2450T>A	NP_001336665.1:p.Leu817Gln
NM_001375320.1:c.2450T>A	NP_001362249.1:p.Leu817Gln
NM_001375321.1:c.2006T>A	NP_001362250.1:p.Leu669Gln
NM_005211.3:c.2450T>A	NP_005202.2:p.Leu817Gln
NM_005211.4:c.2450T>A	NP_005202.2:p.Leu817Gln
NR_109969.1:n.2500T>A
NR_109969.2:n.2414T>A
NR_164679.1:n.2343T>A
ENST00000286301.7:c.2450T>A	ENSP00000286301.3:p.Leu817Gln
ENST00000504875.5:c.*271T>A	ENSP00000422212.1:n.*271T>A
ENST00000515068.1:c.619T>A	ENSP00000427545.1:n.619T>A