Canonical Allele Identifier: CA342938271
Gene: NTRK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2960795
ClinVar RCV Id: RCV003817530
dbSNP Id: rs2102917875

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156876206T>A , CM000663.2:g.156876206T>A GRCh38
NC_000001.10:g.156845998T>A , CM000663.1:g.156845998T>A GRCh37
NC_000001.9:g.155112622T>A NCBI36
NG_007493.1:g.65457T>A , LRG_261:g.65457T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000674537.2:c.1448T>A ENSP00000502725.1:p.Val483Asp
ENST00000392302.7:c.1448T>A ENSP00000376120.3:p.Val483Asp
ENST00000497019.7:c.*220T>A ENSP00000436804.2:n.*220T>A
ENST00000524377.7:c.1628T>A MANE Select ENSP00000431418.1:p.Val543Asp
ENST00000674537.1:c.1448T>A ENSP00000502725.1:p.Val483Asp
ENST00000358660.3:c.1619T>A ENSP00000351486.3:p.Val540Asp
ENST00000368196.7:c.1610T>A ENSP00000357179.3:p.Val537Asp
ENST00000392302.6:c.1520T>A ENSP00000376120.2:p.Val507Asp
ENST00000497019.6:c.*220T>A ENSP00000436804.1:n.*220T>A
ENST00000524377.5:c.1628T>A ENSP00000431418.1:p.Val543Asp
ENST00000530298.5:n.2081T>A
NM_001007792.1:c.1520T>A , LRG_261t1:c.1520T>A NP_001007793.1:p.Val507Asp
NM_001012331.1:c.1610T>A , LRG_261t2:c.1610T>A NP_001012331.1:p.Val537Asp
NM_002529.3:c.1628T>A , LRG_261t3:c.1628T>A NP_002520.2:p.Val543Asp
NM_001012331.2:c.1610T>A NP_001012331.1:p.Val537Asp
NM_002529.4:c.1628T>A MANE Select NP_002520.2:p.Val543Asp