Canonical Allele Identifier: CA1169613

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 2154713
• ClinVar RCV Id: RCV003069423 ; RCV003149049
• dbSNP Id: rs745776726
• ExAC: 1:156851286 G / T
• gnomAD v2: 1-156851286-G-T
• gnomAD v4: 1-156881494-G-T
• MyVariant Identifiers: chr1:g.156851286G>T (hg19) ; chr1:g.156881494G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.2063G>T	ENSP00000502725.1:p.Arg688Leu
ENST00000392302.7:c.2063G>T	ENSP00000376120.3:p.Arg688Leu
ENST00000497019.7:c.*835G>T	ENSP00000436804.2:n.*835G>T
ENST00000524377.7:c.2243G>T MANE Select	ENSP00000431418.1:p.Arg748Leu
ENST00000531606.2:c.302G>T
ENST00000674537.1:c.2063G>T	ENSP00000502725.1:p.Arg688Leu
ENST00000358660.3:c.2234G>T	ENSP00000351486.3:p.Arg745Leu
ENST00000368196.7:c.2225G>T	ENSP00000357179.3:p.Arg742Leu
ENST00000392302.6:c.2135G>T	ENSP00000376120.2:p.Arg712Leu
ENST00000497019.6:c.*835G>T	ENSP00000436804.1:n.*835G>T
ENST00000524377.5:c.2243G>T	ENSP00000431418.1:p.Arg748Leu
ENST00000530298.5:n.2696G>T
ENST00000531606.1:n.286G>T
NM_001007792.1:c.2135G>T , LRG_261t1:c.2135G>T	NP_001007793.1:p.Arg712Leu
NM_001012331.1:c.2225G>T , LRG_261t2:c.2225G>T	NP_001012331.1:p.Arg742Leu
NM_002529.3:c.2243G>T , LRG_261t3:c.2243G>T	NP_002520.2:p.Arg748Leu
NM_001012331.2:c.2225G>T	NP_001012331.1:p.Arg742Leu
NM_002529.4:c.2243G>T MANE Select	NP_002520.2:p.Arg748Leu