Canonical Allele Identifier: CA1169427
Community Standard Title: NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156876413C>T , CM000663.2:g.156876413C>T GRCh38
NC_000001.10:g.156846205C>T , CM000663.1:g.156846205C>T GRCh37
NC_000001.9:g.155112829C>T NCBI36
NG_007493.1:g.65664C>T , LRG_261:g.65664C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.1646C>T MANE Select NP_002520.2:p.Ala549Val
ENST00000524377.7:c.1646C>T MANE Select ENSP00000431418.1:p.Ala549Val
NM_001007792.1:c.1538C>T , LRG_261t1:c.1538C>T NP_001007793.1:p.Ala513Val
NM_001012331.1:c.1628C>T , LRG_261t2:c.1628C>T NP_001012331.1:p.Ala543Val
NM_001012331.2:c.1628C>T NP_001012331.1:p.Ala543Val
NM_002529.3:c.1646C>T , LRG_261t3:c.1646C>T NP_002520.2:p.Ala549Val
ENST00000358660.3:c.1637C>T ENSP00000351486.3:p.Ala546Val
ENST00000368196.7:c.1628C>T ENSP00000357179.3:p.Ala543Val
ENST00000392302.6:c.1538C>T ENSP00000376120.2:p.Ala513Val
ENST00000392302.7:c.1466C>T ENSP00000376120.3:p.Ala489Val
ENST00000497019.6:c.*238C>T ENSP00000436804.1:n.*238C>T
ENST00000497019.7:c.*238C>T ENSP00000436804.2:n.*238C>T
ENST00000524377.5:c.1646C>T ENSP00000431418.1:p.Ala549Val
ENST00000530298.5:n.2099C>T
ENST00000674537.1:c.1466C>T ENSP00000502725.1:p.Ala489Val
ENST00000674537.2:c.1466C>T ENSP00000502725.1:p.Ala489Val