Canonical Allele Identifier: CA3507069
Community Standard Title: NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)
Gene: CSF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150077401T>A , CM000667.2:g.150077401T>A GRCh38
NC_000005.9:g.149456964T>A , CM000667.1:g.149456964T>A GRCh37
NC_000005.8:g.149437157T>A NCBI36
NG_012303.1:g.40972A>T
NG_012303.2:g.40972A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001288705.3:c.764A>T MANE Select NP_001275634.1:p.Asn255Ile
ENST00000675795.1:c.764A>T MANE Select ENSP00000501699.1:p.Asn255Ile
NM_001288705.1:c.764A>T NP_001275634.1:p.Asn255Ile
NM_001288705.2:c.764A>T NP_001275634.1:p.Asn255Ile
NM_001349736.1:c.764A>T NP_001336665.1:p.Asn255Ile
NM_001349736.2:c.764A>T NP_001336665.1:p.Asn255Ile
NM_001375320.1:c.764A>T NP_001362249.1:p.Asn255Ile
NM_001375321.1:c.320A>T NP_001362250.1:p.Asn107Ile
NM_005211.3:c.764A>T NP_005202.2:p.Asn255Ile
NM_005211.4:c.764A>T NP_005202.2:p.Asn255Ile
NR_109969.1:n.977A>T
NR_109969.2:n.891A>T
NR_164679.1:n.820A>T
ENST00000286301.7:c.764A>T ENSP00000286301.3:p.Asn255Ile
ENST00000502660.5:n.891A>T
ENST00000504875.5:c.764A>T ENSP00000422212.1:p.Asn255Ile
ENST00000543093.1:c.764A>T ENSP00000445282.1:p.Asn255Ile