Canonical Allele Identifier: CA31115326
Community Standard Title: NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156873819T>C , CM000663.2:g.156873819T>C GRCh38
NC_000001.10:g.156843611T>C , CM000663.1:g.156843611T>C GRCh37
NC_000001.9:g.155110235T>C NCBI36
NG_007493.1:g.63070T>C , LRG_261:g.63070T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.1037T>C MANE Select NP_002520.2:p.Leu346Pro
ENST00000524377.7:c.1037T>C MANE Select ENSP00000431418.1:p.Leu346Pro
NM_001007792.1:c.947T>C , LRG_261t1:c.947T>C NP_001007793.1:p.Leu316Pro
NM_001012331.1:c.1037T>C , LRG_261t2:c.1037T>C NP_001012331.1:p.Leu346Pro
NM_001012331.2:c.1037T>C NP_001012331.1:p.Leu346Pro
NM_002529.3:c.1037T>C , LRG_261t3:c.1037T>C NP_002520.2:p.Leu346Pro
ENST00000358660.3:c.1037T>C ENSP00000351486.3:p.Leu346Pro
ENST00000368196.7:c.1037T>C ENSP00000357179.3:p.Leu346Pro
ENST00000392302.6:c.947T>C ENSP00000376120.2:p.Leu316Pro
ENST00000392302.7:c.875T>C ENSP00000376120.3:p.Leu292Pro
ENST00000489021.6:n.499T>C
ENST00000497019.6:c.814T>C ENSP00000436804.1:p.Cys272Arg
ENST00000497019.7:c.742T>C ENSP00000436804.2:p.Cys248Arg
ENST00000524377.5:c.1037T>C ENSP00000431418.1:p.Leu346Pro
ENST00000530298.5:n.1095T>C
ENST00000674537.1:c.875T>C ENSP00000502725.1:p.Leu292Pro
ENST00000674537.2:c.875T>C ENSP00000502725.1:p.Leu292Pro