Canonical Allele Identifier: CA342940356
Community Standard Title: NM_002529.4(NTRK1):c.2099T>C (p.Leu700Pro)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156880051T>C , CM000663.2:g.156880051T>C GRCh38
NC_000001.10:g.156849843T>C , CM000663.1:g.156849843T>C GRCh37
NC_000001.9:g.155116467T>C NCBI36
NG_007493.1:g.69302T>C , LRG_261:g.69302T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.2099T>C MANE Select NP_002520.2:p.Leu700Pro
ENST00000524377.7:c.2099T>C MANE Select ENSP00000431418.1:p.Leu700Pro
NM_001007792.1:c.1991T>C , LRG_261t1:c.1991T>C NP_001007793.1:p.Leu664Pro
NM_001012331.1:c.2081T>C , LRG_261t2:c.2081T>C NP_001012331.1:p.Leu694Pro
NM_001012331.2:c.2081T>C NP_001012331.1:p.Leu694Pro
NM_002529.3:c.2099T>C , LRG_261t3:c.2099T>C NP_002520.2:p.Leu700Pro
ENST00000358660.3:c.2090T>C ENSP00000351486.3:p.Leu697Pro
ENST00000368196.7:c.2081T>C ENSP00000357179.3:p.Leu694Pro
ENST00000392302.6:c.1991T>C ENSP00000376120.2:p.Leu664Pro
ENST00000392302.7:c.1919T>C ENSP00000376120.3:p.Leu640Pro
ENST00000497019.6:c.*691T>C ENSP00000436804.1:n.*691T>C
ENST00000497019.7:c.*691T>C ENSP00000436804.2:n.*691T>C
ENST00000524377.5:c.2099T>C ENSP00000431418.1:p.Leu700Pro
ENST00000530298.5:n.2552T>C
ENST00000531606.1:n.51T>C
ENST00000531606.2:c.67T>C
ENST00000674537.1:c.1919T>C ENSP00000502725.1:p.Leu640Pro
ENST00000674537.2:c.1919T>C ENSP00000502725.1:p.Leu640Pro