Canonical Allele Identifier: CA342938234

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 859106
• ClinVar RCV Id: RCV001065138
• dbSNP Id: rs1647892453
• gnomAD v3: 1-156876195-G-A
• gnomAD v4: 1-156876195-G-A
• MyVariant Identifiers: chr1:g.156845987G>A (hg19) ; chr1:g.156876195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156876195G>A , CM000663.2:g.156876195G>A	GRCh38
NC_000001.10:g.156845987G>A , CM000663.1:g.156845987G>A	GRCh37
NC_000001.9:g.155112611G>A	NCBI36
NG_007493.1:g.65446G>A , LRG_261:g.65446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1437G>A	ENSP00000502725.1:p.Met479Ile
ENST00000392302.7:c.1437G>A	ENSP00000376120.3:p.Met479Ile
ENST00000497019.7:c.*209G>A	ENSP00000436804.2:n.*209G>A
ENST00000524377.7:c.1617G>A MANE Select	ENSP00000431418.1:p.Met539Ile
ENST00000674537.1:c.1437G>A	ENSP00000502725.1:p.Met479Ile
ENST00000358660.3:c.1608G>A	ENSP00000351486.3:p.Met536Ile
ENST00000368196.7:c.1599G>A	ENSP00000357179.3:p.Met533Ile
ENST00000392302.6:c.1509G>A	ENSP00000376120.2:p.Met503Ile
ENST00000497019.6:c.*209G>A	ENSP00000436804.1:n.*209G>A
ENST00000524377.5:c.1617G>A	ENSP00000431418.1:p.Met539Ile
ENST00000530298.5:n.2070G>A
ENST00000534682.1:n.840G>A
NM_001007792.1:c.1509G>A , LRG_261t1:c.1509G>A	NP_001007793.1:p.Met503Ile
NM_001012331.1:c.1599G>A , LRG_261t2:c.1599G>A	NP_001012331.1:p.Met533Ile
NM_002529.3:c.1617G>A , LRG_261t3:c.1617G>A	NP_002520.2:p.Met539Ile
NM_001012331.2:c.1599G>A	NP_001012331.1:p.Met533Ile
NM_002529.4:c.1617G>A MANE Select	NP_002520.2:p.Met539Ile