Canonical Allele Identifier: CA31126027

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 965646
• ClinVar RCV Id: RCV001240148
• dbSNP Id: rs745776726
• gnomAD v4: 1-156881494-G-A
• COSMIC: COSM1600991 ; COSM1600992
• MyVariant Identifiers: chr1:g.156851286G>A (hg19) ; chr1:g.156881494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156881494G>A , CM000663.2:g.156881494G>A	GRCh38
NC_000001.10:g.156851286G>A , CM000663.1:g.156851286G>A	GRCh37
NC_000001.9:g.155117910G>A	NCBI36
NG_007493.1:g.70745G>A , LRG_261:g.70745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.2063G>A	ENSP00000502725.1:p.Arg688Gln
ENST00000392302.7:c.2063G>A	ENSP00000376120.3:p.Arg688Gln
ENST00000497019.7:c.*835G>A	ENSP00000436804.2:n.*835G>A
ENST00000524377.7:c.2243G>A MANE Select	ENSP00000431418.1:p.Arg748Gln
ENST00000531606.2:c.302G>A
ENST00000674537.1:c.2063G>A	ENSP00000502725.1:p.Arg688Gln
ENST00000358660.3:c.2234G>A	ENSP00000351486.3:p.Arg745Gln
ENST00000368196.7:c.2225G>A	ENSP00000357179.3:p.Arg742Gln
ENST00000392302.6:c.2135G>A	ENSP00000376120.2:p.Arg712Gln
ENST00000497019.6:c.*835G>A	ENSP00000436804.1:n.*835G>A
ENST00000524377.5:c.2243G>A	ENSP00000431418.1:p.Arg748Gln
ENST00000530298.5:n.2696G>A
ENST00000531606.1:n.286G>A
NM_001007792.1:c.2135G>A , LRG_261t1:c.2135G>A	NP_001007793.1:p.Arg712Gln
NM_001012331.1:c.2225G>A , LRG_261t2:c.2225G>A	NP_001012331.1:p.Arg742Gln
NM_002529.3:c.2243G>A , LRG_261t3:c.2243G>A	NP_002520.2:p.Arg748Gln
NM_001012331.2:c.2225G>A	NP_001012331.1:p.Arg742Gln
NM_002529.4:c.2243G>A MANE Select	NP_002520.2:p.Arg748Gln