Canonical Allele Identifier: CA1169473
Community Standard Title: NM_002529.4(NTRK1):c.1803C>G (p.Leu601=)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156876570C>G , CM000663.2:g.156876570C>G GRCh38
NC_000001.10:g.156846362C>G , CM000663.1:g.156846362C>G GRCh37
NC_000001.9:g.155112986C>G NCBI36
NG_007493.1:g.65821C>G , LRG_261:g.65821C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.1803C>G MANE Select NP_002520.2:p.Leu601=
ENST00000524377.7:c.1803C>G MANE Select ENSP00000431418.1:p.Leu601=
NM_001007792.1:c.1695C>G , LRG_261t1:c.1695C>G NP_001007793.1:p.Leu565=
NM_001012331.1:c.1785C>G , LRG_261t2:c.1785C>G NP_001012331.1:p.Leu595=
NM_001012331.2:c.1785C>G NP_001012331.1:p.Leu595=
NM_002529.3:c.1803C>G , LRG_261t3:c.1803C>G NP_002520.2:p.Leu601=
ENST00000358660.3:c.1794C>G ENSP00000351486.3:p.Leu598=
ENST00000368196.7:c.1785C>G ENSP00000357179.3:p.Leu595=
ENST00000392302.6:c.1695C>G ENSP00000376120.2:p.Leu565=
ENST00000392302.7:c.1623C>G ENSP00000376120.3:p.Leu541=
ENST00000497019.6:c.*395C>G ENSP00000436804.1:n.*395C>G
ENST00000497019.7:c.*395C>G ENSP00000436804.2:n.*395C>G
ENST00000524377.5:c.1803C>G ENSP00000431418.1:p.Leu601=
ENST00000530298.5:n.2256C>G
ENST00000674537.1:c.1623C>G ENSP00000502725.1:p.Leu541=
ENST00000674537.2:c.1623C>G ENSP00000502725.1:p.Leu541=