Canonical Allele Identifier: CA421140591
Community Standard Title: NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156881465C>T , CM000663.2:g.156881465C>T GRCh38
NC_000001.10:g.156851257C>T , CM000663.1:g.156851257C>T GRCh37
NC_000001.9:g.155117881C>T NCBI36
NG_007493.1:g.70716C>T , LRG_261:g.70716C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.2214C>T MANE Select NP_002520.2:p.Asp738=
ENST00000524377.7:c.2214C>T MANE Select ENSP00000431418.1:p.Asp738=
NM_001007792.1:c.2106C>T , LRG_261t1:c.2106C>T NP_001007793.1:p.Asp702=
NM_001012331.1:c.2196C>T , LRG_261t2:c.2196C>T NP_001012331.1:p.Asp732=
NM_001012331.2:c.2196C>T NP_001012331.1:p.Asp732=
NM_002529.3:c.2214C>T , LRG_261t3:c.2214C>T NP_002520.2:p.Asp738=
ENST00000358660.3:c.2205C>T ENSP00000351486.3:p.Asp735=
ENST00000368196.7:c.2196C>T ENSP00000357179.3:p.Asp732=
ENST00000392302.6:c.2106C>T ENSP00000376120.2:p.Asp702=
ENST00000392302.7:c.2034C>T ENSP00000376120.3:p.Asp678=
ENST00000497019.6:c.*806C>T ENSP00000436804.1:n.*806C>T
ENST00000497019.7:c.*806C>T ENSP00000436804.2:n.*806C>T
ENST00000524377.5:c.2214C>T ENSP00000431418.1:p.Asp738=
ENST00000530298.5:n.2667C>T
ENST00000531606.1:n.257C>T
ENST00000531606.2:c.273C>T
ENST00000674537.1:c.2034C>T ENSP00000502725.1:p.Asp678=
ENST00000674537.2:c.2034C>T ENSP00000502725.1:p.Asp678=