Canonical Allele Identifier: CA045135
Gene: NTRK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12304
ClinVar RCV Id: RCV000030667

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[156860959C>T;156879126C>T;156879154G>T] , CM000663.2:g.[156860959C>T;156879126C>T;156879154G>T] GRCh38
NC_000001.10:g.[156830751C>T;156848918C>T;156848946G>T] , CM000663.1:g.[156830751C>T;156848918C>T;156848946G>T] GRCh37
NC_000001.9:g.[155097375C>T;155115542C>T;155115570G>T] NCBI36
NG_007493.1:g.[50210C>T;68377C>T;68405G>T] , LRG_261:g.[50210C>T;68377C>T;68405G>T]

Transcript Alleles

HGVS Amino-acid change
ENST00000392302.7:c.[51-3395C>T;1630C>T;1658G>T] ENSP00000376120.3:p.[His544Tyr;Gly553Val]...
ENST00000497019.7:c.[51-3395C>T;*402C>T;*430G>T] ENSP00000436804.2:p.=
ENST00000524377.7:c.[25C>T;1810C>T;1838G>T] MANE Select ENSP00000431418.1:p.Gln9Ter
ENST00000674537.1:c.[51-3395C>T;1630C>T;1658G>T] ENSP00000502725.1:p.[His544Tyr;Gly553Val]...
ENST00000358660.3:c.[25C>T;1801C>T;1829G>T] ENSP00000351486.3:p.Gln9Ter
ENST00000368196.7:c.[25C>T;1792C>T;1820G>T] ENSP00000357179.3:p.Gln9Ter
ENST00000392302.6:c.[123-3395C>T;1702C>T;1730G>T] ENSP00000376120.2:p.[His568Tyr;Gly577Val]...
ENST00000497019.6:c.[123-3395C>T;*402C>T;*430G>T] ENSP00000436804.1:p.=
ENST00000524377.5:c.[25C>T;1810C>T;1838G>T] ENSP00000431418.1:p.Gln9Ter
ENST00000530298.5:n.[271-3395C>T;2263C>T;2291G>T]
NM_001007792.1:c.[123-3395C>T;1702C>T;1730G>T] , LRG_261t1:c.[123-3395C>T;1702C>T;1730G>T] NP_001007793.1:p.[His568Tyr;Gly577Val]
NM_001012331.1:c.[25C>T;1792C>T;1820G>T] , LRG_261t2:c.[25C>T;1792C>T;1820G>T] NP_001012331.1:p.Gln9Ter
NM_002529.3:c.[25C>T;1810C>T;1838G>T] , LRG_261t3:c.[25C>T;1810C>T;1838G>T] NP_002520.2:p.Gln9Ter
NM_001012331.2:c.[25C>T;1792C>T;1820G>T] NP_001012331.1:p.Gln9Ter
NM_002529.4:c.[25C>T;1810C>T;1838G>T] MANE Select NP_002520.2:p.Gln9Ter