Canonical Allele Identifier: CA1169517
Community Standard Title: NM_002529.4(NTRK1):c.1917G>A (p.Val639=)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156879233G>A , CM000663.2:g.156879233G>A GRCh38
NC_000001.10:g.156849025G>A , CM000663.1:g.156849025G>A GRCh37
NC_000001.9:g.155115649G>A NCBI36
NG_007493.1:g.68484G>A , LRG_261:g.68484G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.1917G>A MANE Select NP_002520.2:p.Val639=
ENST00000524377.7:c.1917G>A MANE Select ENSP00000431418.1:p.Val639=
NM_001007792.1:c.1809G>A , LRG_261t1:c.1809G>A NP_001007793.1:p.Val603=
NM_001012331.1:c.1899G>A , LRG_261t2:c.1899G>A NP_001012331.1:p.Val633=
NM_001012331.2:c.1899G>A NP_001012331.1:p.Val633=
NM_002529.3:c.1917G>A , LRG_261t3:c.1917G>A NP_002520.2:p.Val639=
ENST00000358660.3:c.1908G>A ENSP00000351486.3:p.Val636=
ENST00000368196.7:c.1899G>A ENSP00000357179.3:p.Val633=
ENST00000392302.6:c.1809G>A ENSP00000376120.2:p.Val603=
ENST00000392302.7:c.1737G>A ENSP00000376120.3:p.Val579=
ENST00000497019.6:c.*509G>A ENSP00000436804.1:n.*509G>A
ENST00000497019.7:c.*509G>A ENSP00000436804.2:n.*509G>A
ENST00000524377.5:c.1917G>A ENSP00000431418.1:p.Val639=
ENST00000530298.5:n.2370G>A
ENST00000674537.1:c.1737G>A ENSP00000502725.1:p.Val579=
ENST00000674537.2:c.1737G>A ENSP00000502725.1:p.Val579=