Canonical Allele Identifier: CA1169134
Gene: NTRK1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156873647C>A , CM000663.2:g.156873647C>A GRCh38
NC_000001.10:g.156843439C>A , CM000663.1:g.156843439C>A GRCh37
NC_000001.9:g.155110063C>A NCBI36
NG_007493.1:g.62898C>A , LRG_261:g.62898C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000674537.2:c.703C>A ENSP00000502725.1:p.Gln235Lys
ENST00000392302.7:c.703C>A ENSP00000376120.3:p.Gln235Lys
ENST00000497019.7:c.570C>A ENSP00000436804.2:p.Cys190Ter
ENST00000524377.7:c.865C>A MANE Select ENSP00000431418.1:p.Gln289Lys
ENST00000674537.1:c.703C>A ENSP00000502725.1:p.Gln235Lys
ENST00000358660.3:c.865C>A ENSP00000351486.3:p.Gln289Lys
ENST00000368196.7:c.865C>A ENSP00000357179.3:p.Gln289Lys
ENST00000392302.6:c.775C>A ENSP00000376120.2:p.Gln259Lys
ENST00000489021.6:n.327C>A
ENST00000497019.6:c.642C>A ENSP00000436804.1:p.Cys214Ter
ENST00000524377.5:c.865C>A ENSP00000431418.1:p.Gln289Lys
ENST00000530298.5:n.923C>A
NM_001007792.1:c.775C>A , LRG_261t1:c.775C>A NP_001007793.1:p.Gln259Lys
NM_001012331.1:c.865C>A , LRG_261t2:c.865C>A NP_001012331.1:p.Gln289Lys
NM_002529.3:c.865C>A , LRG_261t3:c.865C>A NP_002520.2:p.Gln289Lys
NM_001012331.2:c.865C>A NP_001012331.1:p.Gln289Lys
NM_002529.4:c.865C>A MANE Select NP_002520.2:p.Gln289Lys