Canonical Allele Identifier: CA342941435

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 999645
• ClinVar RCV Id: RCV001295666
• dbSNP Id: rs1648255941
• gnomAD v4: 1-156881490-G-A
• MyVariant Identifiers: chr1:g.156851282G>A (hg19) ; chr1:g.156881490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156881490G>A , CM000663.2:g.156881490G>A	GRCh38
NC_000001.10:g.156851282G>A , CM000663.1:g.156851282G>A	GRCh37
NC_000001.9:g.155117906G>A	NCBI36
NG_007493.1:g.70741G>A , LRG_261:g.70741G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.2059G>A	ENSP00000502725.1:p.Glu687Lys
ENST00000392302.7:c.2059G>A	ENSP00000376120.3:p.Glu687Lys
ENST00000497019.7:c.*831G>A	ENSP00000436804.2:n.*831G>A
ENST00000524377.7:c.2239G>A MANE Select	ENSP00000431418.1:p.Glu747Lys
ENST00000531606.2:c.298G>A
ENST00000674537.1:c.2059G>A	ENSP00000502725.1:p.Glu687Lys
ENST00000358660.3:c.2230G>A	ENSP00000351486.3:p.Glu744Lys
ENST00000368196.7:c.2221G>A	ENSP00000357179.3:p.Glu741Lys
ENST00000392302.6:c.2131G>A	ENSP00000376120.2:p.Glu711Lys
ENST00000497019.6:c.*831G>A	ENSP00000436804.1:n.*831G>A
ENST00000524377.5:c.2239G>A	ENSP00000431418.1:p.Glu747Lys
ENST00000530298.5:n.2692G>A
ENST00000531606.1:n.282G>A
NM_001007792.1:c.2131G>A , LRG_261t1:c.2131G>A	NP_001007793.1:p.Glu711Lys
NM_001012331.1:c.2221G>A , LRG_261t2:c.2221G>A	NP_001012331.1:p.Glu741Lys
NM_002529.3:c.2239G>A , LRG_261t3:c.2239G>A	NP_002520.2:p.Glu747Lys
NM_001012331.2:c.2221G>A	NP_001012331.1:p.Glu741Lys
NM_002529.4:c.2239G>A MANE Select	NP_002520.2:p.Glu747Lys