Canonical Allele Identifier: CA342935489
Community Standard Title: NM_002529.4(NTRK1):c.867G>T (p.Gln289His)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156873649G>T , CM000663.2:g.156873649G>T GRCh38
NC_000001.10:g.156843441G>T , CM000663.1:g.156843441G>T GRCh37
NC_000001.9:g.155110065G>T NCBI36
NG_007493.1:g.62900G>T , LRG_261:g.62900G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.867G>T MANE Select NP_002520.2:p.Gln289His
ENST00000524377.7:c.867G>T MANE Select ENSP00000431418.1:p.Gln289His
NM_001007792.1:c.777G>T , LRG_261t1:c.777G>T NP_001007793.1:p.Gln259His
NM_001012331.1:c.867G>T , LRG_261t2:c.867G>T NP_001012331.1:p.Gln289His
NM_001012331.2:c.867G>T NP_001012331.1:p.Gln289His
NM_002529.3:c.867G>T , LRG_261t3:c.867G>T NP_002520.2:p.Gln289His
ENST00000358660.3:c.867G>T ENSP00000351486.3:p.Gln289His
ENST00000368196.7:c.867G>T ENSP00000357179.3:p.Gln289His
ENST00000392302.6:c.777G>T ENSP00000376120.2:p.Gln259His
ENST00000392302.7:c.705G>T ENSP00000376120.3:p.Gln235His
ENST00000489021.6:n.329G>T
ENST00000497019.6:c.644G>T ENSP00000436804.1:p.Ser215Ile
ENST00000497019.7:c.572G>T ENSP00000436804.2:p.Ser191Ile
ENST00000524377.5:c.867G>T ENSP00000431418.1:p.Gln289His
ENST00000530298.5:n.925G>T
ENST00000674537.1:c.705G>T ENSP00000502725.1:p.Gln235His
ENST00000674537.2:c.705G>T ENSP00000502725.1:p.Gln235His