Canonical Allele Identifier: CA1169521

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 637430
• ClinVar RCV Id: RCV000789609
• dbSNP Id: rs764992664
• ExAC: 1:156849068 C / T
• gnomAD v2: 1-156849068-C-T
• gnomAD v4: 1-156879276-C-T
• MyVariant Identifiers: chr1:g.156849068C>T (hg19) ; chr1:g.156879276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156879276C>T , CM000663.2:g.156879276C>T	GRCh38
NC_000001.10:g.156849068C>T , CM000663.1:g.156849068C>T	GRCh37
NC_000001.9:g.155115692C>T	NCBI36
NG_007493.1:g.68527C>T , LRG_261:g.68527C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.1780C>T	ENSP00000502725.1:p.Arg594Cys
ENST00000392302.7:c.1780C>T	ENSP00000376120.3:p.Arg594Cys
ENST00000497019.7:c.*552C>T	ENSP00000436804.2:n.*552C>T
ENST00000524377.7:c.1960C>T MANE Select	ENSP00000431418.1:p.Arg654Cys
ENST00000674537.1:c.1780C>T	ENSP00000502725.1:p.Arg594Cys
ENST00000358660.3:c.1951C>T	ENSP00000351486.3:p.Arg651Cys
ENST00000368196.7:c.1942C>T	ENSP00000357179.3:p.Arg648Cys
ENST00000392302.6:c.1852C>T	ENSP00000376120.2:p.Arg618Cys
ENST00000497019.6:c.*552C>T	ENSP00000436804.1:n.*552C>T
ENST00000524377.5:c.1960C>T	ENSP00000431418.1:p.Arg654Cys
ENST00000530298.5:n.2413C>T
NM_001007792.1:c.1852C>T , LRG_261t1:c.1852C>T	NP_001007793.1:p.Arg618Cys
NM_001012331.1:c.1942C>T , LRG_261t2:c.1942C>T	NP_001012331.1:p.Arg648Cys
NM_002529.3:c.1960C>T , LRG_261t3:c.1960C>T	NP_002520.2:p.Arg654Cys
NM_001012331.2:c.1942C>T	NP_001012331.1:p.Arg648Cys
NM_002529.4:c.1960C>T MANE Select	NP_002520.2:p.Arg654Cys