Canonical Allele Identifier: CA1169102
Community Standard Title: NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156871723G>A , CM000663.2:g.156871723G>A GRCh38
NC_000001.10:g.156841515G>A , CM000663.1:g.156841515G>A GRCh37
NC_000001.9:g.155108139G>A NCBI36
NG_007493.1:g.60974G>A , LRG_261:g.60974G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.818G>A MANE Select NP_002520.2:p.Arg273Gln
ENST00000524377.7:c.818G>A MANE Select ENSP00000431418.1:p.Arg273Gln
NM_001007792.1:c.728G>A , LRG_261t1:c.728G>A NP_001007793.1:p.Arg243Gln
NM_001012331.1:c.818G>A , LRG_261t2:c.818G>A NP_001012331.1:p.Arg273Gln
NM_001012331.2:c.818G>A NP_001012331.1:p.Arg273Gln
NM_002529.3:c.818G>A , LRG_261t3:c.818G>A NP_002520.2:p.Arg273Gln
ENST00000358660.3:c.818G>A ENSP00000351486.3:p.Arg273Gln
ENST00000368196.7:c.818G>A ENSP00000357179.3:p.Arg273Gln
ENST00000392302.6:c.728G>A ENSP00000376120.2:p.Arg243Gln
ENST00000392302.7:c.656G>A ENSP00000376120.3:p.Arg219Gln
ENST00000489021.6:n.313-1910G>A
ENST00000497019.6:c.628-1910G>A ENSP00000436804.1:n.628-1910G>A
ENST00000497019.7:c.556-1910G>A ENSP00000436804.2:n.556-1910G>A
ENST00000524377.5:c.818G>A ENSP00000431418.1:p.Arg273Gln
ENST00000530298.5:n.876G>A
ENST00000674537.1:c.656G>A ENSP00000502725.1:p.Arg219Gln
ENST00000674537.2:c.656G>A ENSP00000502725.1:p.Arg219Gln