Canonical Allele Identifier: CA361758573
Community Standard Title: NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150056113C>T , CM000667.2:g.150056113C>T GRCh38
NC_000005.9:g.149435676C>T , CM000667.1:g.149435676C>T GRCh37
NC_000005.8:g.149415869C>T NCBI36
NG_012303.1:g.62260G>A
NG_012303.2:g.62260G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.2467G>A MANE Select NP_001275634.1:p.Ala823Thr
ENST00000675795.1:c.2467G>A MANE Select ENSP00000501699.1:p.Ala823Thr
NM_001288705.1:c.2467G>A NP_001275634.1:p.Ala823Thr
NM_001288705.2:c.2467G>A NP_001275634.1:p.Ala823Thr
NM_001349736.1:c.2467G>A NP_001336665.1:p.Ala823Thr
NM_001349736.2:c.2467G>A NP_001336665.1:p.Ala823Thr
NM_001375320.1:c.2467G>A NP_001362249.1:p.Ala823Thr
NM_001375321.1:c.2023G>A NP_001362250.1:p.Ala675Thr
NM_005211.3:c.2467G>A NP_005202.2:p.Ala823Thr
NM_005211.4:c.2467G>A NP_005202.2:p.Ala823Thr
NR_109969.1:n.2517G>A
NR_109969.2:n.2431G>A
NR_164679.1:n.2360G>A
ENST00000286301.7:c.2467G>A ENSP00000286301.3:p.Ala823Thr
ENST00000504875.5:c.*288G>A ENSP00000422212.1:n.*288G>A
ENST00000515068.1:c.636G>A ENSP00000427545.1:n.636G>A