Canonical Allele Identifier: CA31126014

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 3015096
• ClinVar RCV Id: RCV003870703
• dbSNP Id: rs1050597326
• gnomAD v3: 1-156881492-G-A
• gnomAD v4: 1-156881492-G-A
• MyVariant Identifiers: chr1:g.156851284G>A (hg19) ; chr1:g.156881492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156881492G>A , CM000663.2:g.156881492G>A	GRCh38
NC_000001.10:g.156851284G>A , CM000663.1:g.156851284G>A	GRCh37
NC_000001.9:g.155117908G>A	NCBI36
NG_007493.1:g.70743G>A , LRG_261:g.70743G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.2061G>A	ENSP00000502725.1:p.Glu687=
ENST00000392302.7:c.2061G>A	ENSP00000376120.3:p.Glu687=
ENST00000497019.7:c.*833G>A	ENSP00000436804.2:n.*833G>A
ENST00000524377.7:c.2241G>A MANE Select	ENSP00000431418.1:p.Glu747=
ENST00000531606.2:c.300G>A
ENST00000674537.1:c.2061G>A	ENSP00000502725.1:p.Glu687=
ENST00000358660.3:c.2232G>A	ENSP00000351486.3:p.Glu744=
ENST00000368196.7:c.2223G>A	ENSP00000357179.3:p.Glu741=
ENST00000392302.6:c.2133G>A	ENSP00000376120.2:p.Glu711=
ENST00000497019.6:c.*833G>A	ENSP00000436804.1:n.*833G>A
ENST00000524377.5:c.2241G>A	ENSP00000431418.1:p.Glu747=
ENST00000530298.5:n.2694G>A
ENST00000531606.1:n.284G>A
NM_001007792.1:c.2133G>A , LRG_261t1:c.2133G>A	NP_001007793.1:p.Glu711=
NM_001012331.1:c.2223G>A , LRG_261t2:c.2223G>A	NP_001012331.1:p.Glu741=
NM_002529.3:c.2241G>A , LRG_261t3:c.2241G>A	NP_002520.2:p.Glu747=
NM_001012331.2:c.2223G>A	NP_001012331.1:p.Glu741=
NM_002529.4:c.2241G>A MANE Select	NP_002520.2:p.Glu747=