Canonical Allele Identifier: CA31104084

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 456615
• ClinVar RCV Id: RCV000530155 ; RCV002438294
• dbSNP Id: rs991913175
• gnomAD v2: 1-156834213-A-C
• gnomAD v4: 1-156864421-A-C
• MyVariant Identifiers: chr1:g.156834213A>C (hg19) ; chr1:g.156864421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156864421A>C , CM000663.2:g.156864421A>C	GRCh38
NC_000001.10:g.156834213A>C , CM000663.1:g.156834213A>C	GRCh37
NC_000001.9:g.155100837A>C	NCBI36
NG_007493.1:g.53672A>C , LRG_261:g.53672A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.118A>C	ENSP00000502725.1:p.Arg40=
ENST00000392302.7:c.118A>C	ENSP00000376120.3:p.Arg40=
ENST00000497019.7:c.118A>C	ENSP00000436804.2:p.Arg40=
ENST00000524377.7:c.280A>C MANE Select	ENSP00000431418.1:p.Arg94=
ENST00000674537.1:c.118A>C	ENSP00000502725.1:p.Arg40=
ENST00000675461.1:c.280A>C	ENSP00000501668.1:p.Arg94=
ENST00000358660.3:c.280A>C	ENSP00000351486.3:p.Arg94=
ENST00000368196.7:c.280A>C	ENSP00000357179.3:p.Arg94=
ENST00000392302.6:c.190A>C	ENSP00000376120.2:p.Arg64=
ENST00000489021.6:n.313-9212A>C
ENST00000497019.6:c.190A>C	ENSP00000436804.1:p.Arg64=
ENST00000524377.5:c.280A>C	ENSP00000431418.1:p.Arg94=
ENST00000530298.5:n.338A>C
ENST00000533630.1:n.302A>C
NM_001007792.1:c.190A>C , LRG_261t1:c.190A>C	NP_001007793.1:p.Arg64=
NM_001012331.1:c.280A>C , LRG_261t2:c.280A>C	NP_001012331.1:p.Arg94=
NM_002529.3:c.280A>C , LRG_261t3:c.280A>C	NP_002520.2:p.Arg94=
NM_001012331.2:c.280A>C	NP_001012331.1:p.Arg94=
NM_002529.4:c.280A>C MANE Select	NP_002520.2:p.Arg94=