Canonical Allele Identifier: CA1169634
Gene: NTRK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456613
ClinVar RCV Id: RCV000531042
dbSNP Id: rs370504033
COSMIC: COSM20540

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156881585C>T , CM000663.2:g.156881585C>T GRCh38
NC_000001.10:g.156851377C>T , CM000663.1:g.156851377C>T GRCh37
NC_000001.9:g.155118001C>T NCBI36
NG_007493.1:g.70836C>T , LRG_261:g.70836C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392302.7:c.2154C>T ENSP00000376120.3:p.His718=
ENST00000497019.7:c.*926C>T ENSP00000436804.2:p.=
ENST00000524377.7:c.2334C>T MANE Select ENSP00000431418.1:p.His778=
ENST00000531606.2:n.393C>T
ENST00000674537.1:c.2154C>T ENSP00000502725.1:p.His718=
ENST00000358660.3:c.2325C>T ENSP00000351486.3:p.His775=
ENST00000368196.7:c.2316C>T ENSP00000357179.3:p.His772=
ENST00000392302.6:c.2226C>T ENSP00000376120.2:p.His742=
ENST00000497019.6:c.*926C>T ENSP00000436804.1:p.=
ENST00000524377.5:c.2334C>T ENSP00000431418.1:p.His778=
ENST00000530298.5:n.2787C>T
ENST00000531606.1:n.377C>T
NM_001007792.1:c.2226C>T , LRG_261t1:c.2226C>T NP_001007793.1:p.His742=
NM_001012331.1:c.2316C>T , LRG_261t2:c.2316C>T NP_001012331.1:p.His772=
NM_002529.3:c.2334C>T , LRG_261t3:c.2334C>T NP_002520.2:p.His778=
NM_001012331.2:c.2316C>T NP_001012331.1:p.His772=
NM_002529.4:c.2334C>T MANE Select NP_002520.2:p.His778=