Canonical Allele Identifier: CA31108140

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 856438
• ClinVar RCV Id: RCV001061901 ; RCV002339303
• dbSNP Id: rs368564443
• gnomAD v2: 1-156837920-C-G
• gnomAD v3: 1-156868128-C-G
• gnomAD v4: 1-156868128-C-G
• MyVariant Identifiers: chr1:g.156837920C>G (hg19) ; chr1:g.156868128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156868128C>G , CM000663.2:g.156868128C>G	GRCh38
NC_000001.10:g.156837920C>G , CM000663.1:g.156837920C>G	GRCh37
NC_000001.9:g.155104544C>G	NCBI36
NG_007493.1:g.57379C>G , LRG_261:g.57379C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.291C>G	ENSP00000502725.1:p.His97Gln
ENST00000392302.7:c.291C>G	ENSP00000376120.3:p.His97Gln
ENST00000497019.7:c.291C>G	ENSP00000436804.2:p.His97Gln
ENST00000524377.7:c.453C>G MANE Select	ENSP00000431418.1:p.His151Gln
ENST00000674537.1:c.291C>G	ENSP00000502725.1:p.His97Gln
ENST00000358660.3:c.453C>G	ENSP00000351486.3:p.His151Gln
ENST00000368196.7:c.453C>G	ENSP00000357179.3:p.His151Gln
ENST00000392302.6:c.363C>G	ENSP00000376120.2:p.His121Gln
ENST00000489021.6:n.313-5505C>G
ENST00000497019.6:c.363C>G	ENSP00000436804.1:p.His121Gln
ENST00000524377.5:c.453C>G	ENSP00000431418.1:p.His151Gln
ENST00000530298.5:n.511C>G
NM_001007792.1:c.363C>G , LRG_261t1:c.363C>G	NP_001007793.1:p.His121Gln
NM_001012331.1:c.453C>G , LRG_261t2:c.453C>G	NP_001012331.1:p.His151Gln
NM_002529.3:c.453C>G , LRG_261t3:c.453C>G	NP_002520.2:p.His151Gln
NM_001012331.2:c.453C>G	NP_001012331.1:p.His151Gln
NM_002529.4:c.453C>G MANE Select	NP_002520.2:p.His151Gln