Canonical Allele Identifier: CA1169004
Gene: NTRK1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156868184T>C , CM000663.2:g.156868184T>C GRCh38
NC_000001.10:g.156837976T>C , CM000663.1:g.156837976T>C GRCh37
NC_000001.9:g.155104600T>C NCBI36
NG_007493.1:g.57435T>C , LRG_261:g.57435T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000674537.2:c.347T>C ENSP00000502725.1:p.Val116Ala
ENST00000392302.7:c.347T>C ENSP00000376120.3:p.Val116Ala
ENST00000497019.7:c.347T>C ENSP00000436804.2:p.Val116Ala
ENST00000524377.7:c.509T>C MANE Select ENSP00000431418.1:p.Val170Ala
ENST00000674537.1:c.347T>C ENSP00000502725.1:p.Val116Ala
ENST00000358660.3:c.509T>C ENSP00000351486.3:p.Val170Ala
ENST00000368196.7:c.509T>C ENSP00000357179.3:p.Val170Ala
ENST00000392302.6:c.419T>C ENSP00000376120.2:p.Val140Ala
ENST00000489021.6:n.313-5449T>C
ENST00000497019.6:c.419T>C ENSP00000436804.1:p.Val140Ala
ENST00000524377.5:c.509T>C ENSP00000431418.1:p.Val170Ala
ENST00000530298.5:n.567T>C
NM_001007792.1:c.419T>C , LRG_261t1:c.419T>C NP_001007793.1:p.Val140Ala
NM_001012331.1:c.509T>C , LRG_261t2:c.509T>C NP_001012331.1:p.Val170Ala
NM_002529.3:c.509T>C , LRG_261t3:c.509T>C NP_002520.2:p.Val170Ala
NM_001012331.2:c.509T>C NP_001012331.1:p.Val170Ala
NM_002529.4:c.509T>C MANE Select NP_002520.2:p.Val170Ala