Canonical Allele Identifier: CA1169054
Community Standard Title: NM_002529.4(NTRK1):c.602C>A (p.Pro201His)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156868532C>A , CM000663.2:g.156868532C>A GRCh38
NC_000001.10:g.156838324C>A , CM000663.1:g.156838324C>A GRCh37
NC_000001.9:g.155104948C>A NCBI36
NG_007493.1:g.57783C>A , LRG_261:g.57783C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.602C>A MANE Select NP_002520.2:p.Pro201His
ENST00000524377.7:c.602C>A MANE Select ENSP00000431418.1:p.Pro201His
NM_001007792.1:c.512C>A , LRG_261t1:c.512C>A NP_001007793.1:p.Pro171His
NM_001012331.1:c.602C>A , LRG_261t2:c.602C>A NP_001012331.1:p.Pro201His
NM_001012331.2:c.602C>A NP_001012331.1:p.Pro201His
NM_002529.3:c.602C>A , LRG_261t3:c.602C>A NP_002520.2:p.Pro201His
ENST00000358660.3:c.602C>A ENSP00000351486.3:p.Pro201His
ENST00000368196.7:c.602C>A ENSP00000357179.3:p.Pro201His
ENST00000392302.6:c.512C>A ENSP00000376120.2:p.Pro171His
ENST00000392302.7:c.440C>A ENSP00000376120.3:p.Pro147His
ENST00000489021.6:n.313-5101C>A
ENST00000497019.6:c.512C>A ENSP00000436804.1:p.Pro171His
ENST00000497019.7:c.440C>A ENSP00000436804.2:p.Pro147His
ENST00000524377.5:c.602C>A ENSP00000431418.1:p.Pro201His
ENST00000530298.5:n.660C>A
ENST00000674537.1:c.440C>A ENSP00000502725.1:p.Pro147His
ENST00000674537.2:c.440C>A ENSP00000502725.1:p.Pro147His