Canonical Allele Identifier: CA31123518
Community Standard Title: NM_002529.4(NTRK1):c.2046+3A>C
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156879365A>C , CM000663.2:g.156879365A>C GRCh38
NC_000001.10:g.156849157A>C , CM000663.1:g.156849157A>C GRCh37
NC_000001.9:g.155115781A>C NCBI36
NG_007493.1:g.68616A>C , LRG_261:g.68616A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.2046+3A>C MANE Select NP_002520.2:n.2046+3A>C
ENST00000524377.7:c.2046+3A>C MANE Select ENSP00000431418.1:n.2046+3A>C
NM_001007792.1:c.1938+3A>C , LRG_261t1:c.1938+3A>C NP_001007793.1:n.1938+3A>C
NM_001012331.1:c.2028+3A>C , LRG_261t2:c.2028+3A>C NP_001012331.1:n.2028+3A>C
NM_001012331.2:c.2028+3A>C NP_001012331.1:n.2028+3A>C
NM_002529.3:c.2046+3A>C , LRG_261t3:c.2046+3A>C NP_002520.2:n.2046+3A>C
ENST00000358660.3:c.2037+3A>C ENSP00000351486.3:n.2037+3A>C
ENST00000368196.7:c.2028+3A>C ENSP00000357179.3:n.2028+3A>C
ENST00000392302.6:c.1938+3A>C ENSP00000376120.2:n.1938+3A>C
ENST00000392302.7:c.1866+3A>C ENSP00000376120.3:n.1866+3A>C
ENST00000497019.6:c.*638+3A>C ENSP00000436804.1:n.*638+3A>C
ENST00000497019.7:c.*638+3A>C ENSP00000436804.2:n.*638+3A>C
ENST00000524377.5:c.2046+3A>C ENSP00000431418.1:n.2046+3A>C
ENST00000530298.5:n.2499+3A>C
ENST00000531606.2:c.14+3A>C
ENST00000674537.1:c.1866+3A>C ENSP00000502725.1:n.1866+3A>C
ENST00000674537.2:c.1866+3A>C ENSP00000502725.1:n.1866+3A>C