Canonical Allele Identifier: CA31123407
Gene: NTRK1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156879234T>C , CM000663.2:g.156879234T>C GRCh38
NC_000001.10:g.156849026T>C , CM000663.1:g.156849026T>C GRCh37
NC_000001.9:g.155115650T>C NCBI36
NG_007493.1:g.68485T>C , LRG_261:g.68485T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000674537.2:c.1738T>C ENSP00000502725.1:p.Tyr580His
ENST00000392302.7:c.1738T>C ENSP00000376120.3:p.Tyr580His
ENST00000497019.7:c.*510T>C ENSP00000436804.2:n.*510T>C
ENST00000524377.7:c.1918T>C MANE Select ENSP00000431418.1:p.Tyr640His
ENST00000674537.1:c.1738T>C ENSP00000502725.1:p.Tyr580His
ENST00000358660.3:c.1909T>C ENSP00000351486.3:p.Tyr637His
ENST00000368196.7:c.1900T>C ENSP00000357179.3:p.Tyr634His
ENST00000392302.6:c.1810T>C ENSP00000376120.2:p.Tyr604His
ENST00000497019.6:c.*510T>C ENSP00000436804.1:n.*510T>C
ENST00000524377.5:c.1918T>C ENSP00000431418.1:p.Tyr640His
ENST00000530298.5:n.2371T>C
NM_001007792.1:c.1810T>C , LRG_261t1:c.1810T>C NP_001007793.1:p.Tyr604His
NM_001012331.1:c.1900T>C , LRG_261t2:c.1900T>C NP_001012331.1:p.Tyr634His
NM_002529.3:c.1918T>C , LRG_261t3:c.1918T>C NP_002520.2:p.Tyr640His
NM_001012331.2:c.1900T>C NP_001012331.1:p.Tyr634His
NM_002529.4:c.1918T>C MANE Select NP_002520.2:p.Tyr640His