Canonical Allele Identifier: CA342940602
Community Standard Title: NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156880121C>A , CM000663.2:g.156880121C>A GRCh38
NC_000001.10:g.156849913C>A , CM000663.1:g.156849913C>A GRCh37
NC_000001.9:g.155116537C>A NCBI36
NG_007493.1:g.69372C>A , LRG_261:g.69372C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.2169C>A MANE Select NP_002520.2:p.Tyr723Ter
ENST00000524377.7:c.2169C>A MANE Select ENSP00000431418.1:p.Tyr723Ter
NM_001007792.1:c.2061C>A , LRG_261t1:c.2061C>A NP_001007793.1:p.Tyr687Ter
NM_001012331.1:c.2151C>A , LRG_261t2:c.2151C>A NP_001012331.1:p.Tyr717Ter
NM_001012331.2:c.2151C>A NP_001012331.1:p.Tyr717Ter
NM_002529.3:c.2169C>A , LRG_261t3:c.2169C>A NP_002520.2:p.Tyr723Ter
ENST00000358660.3:c.2160C>A ENSP00000351486.3:p.Tyr720Ter
ENST00000368196.7:c.2151C>A ENSP00000357179.3:p.Tyr717Ter
ENST00000392302.6:c.2061C>A ENSP00000376120.2:p.Tyr687Ter
ENST00000392302.7:c.1989C>A ENSP00000376120.3:p.Tyr663Ter
ENST00000497019.6:c.*761C>A ENSP00000436804.1:n.*761C>A
ENST00000497019.7:c.*761C>A ENSP00000436804.2:n.*761C>A
ENST00000524377.5:c.2169C>A ENSP00000431418.1:p.Tyr723Ter
ENST00000530298.5:n.2622C>A
ENST00000531606.1:n.121C>A
ENST00000531606.2:c.137C>A
ENST00000674537.1:c.1989C>A ENSP00000502725.1:p.Tyr663Ter
ENST00000674537.2:c.1989C>A ENSP00000502725.1:p.Tyr663Ter