Canonical Allele Identifier: CA1169610
Community Standard Title: NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156881482G>A , CM000663.2:g.156881482G>A GRCh38
NC_000001.10:g.156851274G>A , CM000663.1:g.156851274G>A GRCh37
NC_000001.9:g.155117898G>A NCBI36
NG_007493.1:g.70733G>A , LRG_261:g.70733G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.2231G>A MANE Select NP_002520.2:p.Arg744His
ENST00000524377.7:c.2231G>A MANE Select ENSP00000431418.1:p.Arg744His
NM_001007792.1:c.2123G>A , LRG_261t1:c.2123G>A NP_001007793.1:p.Arg708His
NM_001012331.1:c.2213G>A , LRG_261t2:c.2213G>A NP_001012331.1:p.Arg738His
NM_001012331.2:c.2213G>A NP_001012331.1:p.Arg738His
NM_002529.3:c.2231G>A , LRG_261t3:c.2231G>A NP_002520.2:p.Arg744His
ENST00000358660.3:c.2222G>A ENSP00000351486.3:p.Arg741His
ENST00000368196.7:c.2213G>A ENSP00000357179.3:p.Arg738His
ENST00000392302.6:c.2123G>A ENSP00000376120.2:p.Arg708His
ENST00000392302.7:c.2051G>A ENSP00000376120.3:p.Arg684His
ENST00000497019.6:c.*823G>A ENSP00000436804.1:n.*823G>A
ENST00000497019.7:c.*823G>A ENSP00000436804.2:n.*823G>A
ENST00000524377.5:c.2231G>A ENSP00000431418.1:p.Arg744His
ENST00000530298.5:n.2684G>A
ENST00000531606.1:n.274G>A
ENST00000531606.2:c.290G>A
ENST00000674537.1:c.2051G>A ENSP00000502725.1:p.Arg684His
ENST00000674537.2:c.2051G>A ENSP00000502725.1:p.Arg684His