Canonical Allele Identifier: CA342931507
Community Standard Title: NM_002529.4(NTRK1):c.226C>T (p.Gln76Ter)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156864367C>T , CM000663.2:g.156864367C>T GRCh38
NC_000001.10:g.156834159C>T , CM000663.1:g.156834159C>T GRCh37
NC_000001.9:g.155100783C>T NCBI36
NG_007493.1:g.53618C>T , LRG_261:g.53618C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.226C>T MANE Select NP_002520.2:p.Gln76Ter
ENST00000524377.7:c.226C>T MANE Select ENSP00000431418.1:p.Gln76Ter
NM_001007792.1:c.136C>T , LRG_261t1:c.136C>T NP_001007793.1:p.Gln46Ter
NM_001012331.1:c.226C>T , LRG_261t2:c.226C>T NP_001012331.1:p.Gln76Ter
NM_001012331.2:c.226C>T NP_001012331.1:p.Gln76Ter
NM_002529.3:c.226C>T , LRG_261t3:c.226C>T NP_002520.2:p.Gln76Ter
ENST00000358660.3:c.226C>T ENSP00000351486.3:p.Gln76Ter
ENST00000368196.7:c.226C>T ENSP00000357179.3:p.Gln76Ter
ENST00000392302.6:c.136C>T ENSP00000376120.2:p.Gln46Ter
ENST00000392302.7:c.64C>T ENSP00000376120.3:p.Gln22Ter
ENST00000489021.6:n.313-9266C>T
ENST00000497019.6:c.136C>T ENSP00000436804.1:p.Gln46Ter
ENST00000497019.7:c.64C>T ENSP00000436804.2:p.Gln22Ter
ENST00000524377.5:c.226C>T ENSP00000431418.1:p.Gln76Ter
ENST00000530298.5:n.284C>T
ENST00000533630.1:n.248C>T
ENST00000674537.1:c.64C>T ENSP00000502725.1:p.Gln22Ter
ENST00000674537.2:c.64C>T ENSP00000502725.1:p.Gln22Ter
ENST00000675461.1:c.226C>T ENSP00000501668.1:p.Gln76Ter