Canonical Allele Identifier: CA1169578
Community Standard Title: NM_002529.4(NTRK1):c.2143G>A (p.Val715Met)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156880095G>A , CM000663.2:g.156880095G>A GRCh38
NC_000001.10:g.156849887G>A , CM000663.1:g.156849887G>A GRCh37
NC_000001.9:g.155116511G>A NCBI36
NG_007493.1:g.69346G>A , LRG_261:g.69346G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.2143G>A MANE Select NP_002520.2:p.Val715Met
ENST00000524377.7:c.2143G>A MANE Select ENSP00000431418.1:p.Val715Met
NM_001007792.1:c.2035G>A , LRG_261t1:c.2035G>A NP_001007793.1:p.Val679Met
NM_001012331.1:c.2125G>A , LRG_261t2:c.2125G>A NP_001012331.1:p.Val709Met
NM_001012331.2:c.2125G>A NP_001012331.1:p.Val709Met
NM_002529.3:c.2143G>A , LRG_261t3:c.2143G>A NP_002520.2:p.Val715Met
ENST00000358660.3:c.2134G>A ENSP00000351486.3:p.Val712Met
ENST00000368196.7:c.2125G>A ENSP00000357179.3:p.Val709Met
ENST00000392302.6:c.2035G>A ENSP00000376120.2:p.Val679Met
ENST00000392302.7:c.1963G>A ENSP00000376120.3:p.Val655Met
ENST00000497019.6:c.*735G>A ENSP00000436804.1:n.*735G>A
ENST00000497019.7:c.*735G>A ENSP00000436804.2:n.*735G>A
ENST00000524377.5:c.2143G>A ENSP00000431418.1:p.Val715Met
ENST00000530298.5:n.2596G>A
ENST00000531606.1:n.95G>A
ENST00000531606.2:c.111G>A
ENST00000674537.1:c.1963G>A ENSP00000502725.1:p.Val655Met
ENST00000674537.2:c.1963G>A ENSP00000502725.1:p.Val655Met