Canonical Allele Identifier: CA342938474
Community Standard Title: NM_002529.4(NTRK1):c.1674G>T (p.Gln558His)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156876441G>T , CM000663.2:g.156876441G>T GRCh38
NC_000001.10:g.156846233G>T , CM000663.1:g.156846233G>T GRCh37
NC_000001.9:g.155112857G>T NCBI36
NG_007493.1:g.65692G>T , LRG_261:g.65692G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.1674G>T MANE Select NP_002520.2:p.Gln558His
ENST00000524377.7:c.1674G>T MANE Select ENSP00000431418.1:p.Gln558His
NM_001007792.1:c.1566G>T , LRG_261t1:c.1566G>T NP_001007793.1:p.Gln522His
NM_001012331.1:c.1656G>T , LRG_261t2:c.1656G>T NP_001012331.1:p.Gln552His
NM_001012331.2:c.1656G>T NP_001012331.1:p.Gln552His
NM_002529.3:c.1674G>T , LRG_261t3:c.1674G>T NP_002520.2:p.Gln558His
ENST00000358660.3:c.1665G>T ENSP00000351486.3:p.Gln555His
ENST00000368196.7:c.1656G>T ENSP00000357179.3:p.Gln552His
ENST00000392302.6:c.1566G>T ENSP00000376120.2:p.Gln522His
ENST00000392302.7:c.1494G>T ENSP00000376120.3:p.Gln498His
ENST00000497019.6:c.*266G>T ENSP00000436804.1:n.*266G>T
ENST00000497019.7:c.*266G>T ENSP00000436804.2:n.*266G>T
ENST00000524377.5:c.1674G>T ENSP00000431418.1:p.Gln558His
ENST00000530298.5:n.2127G>T
ENST00000674537.1:c.1494G>T ENSP00000502725.1:p.Gln498His
ENST00000674537.2:c.1494G>T ENSP00000502725.1:p.Gln498His