Canonical Allele Identifier: CA1169313

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 847290
• ClinVar RCV Id: RCV001050807
• dbSNP Id: rs202108805
• ExAC: 1:156845315 C / T
• gnomAD v2: 1-156845315-C-T
• gnomAD v3: 1-156875523-C-T
• gnomAD v4: 1-156875523-C-T
• MyVariant Identifiers: chr1:g.156845315C>T (hg19) ; chr1:g.156875523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156875523C>T , CM000663.2:g.156875523C>T	GRCh38
NC_000001.10:g.156845315C>T , CM000663.1:g.156845315C>T	GRCh37
NC_000001.9:g.155111939C>T	NCBI36
NG_007493.1:g.64774C>T , LRG_261:g.64774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1178C>T	ENSP00000502725.1:p.Pro393Leu
ENST00000392302.7:c.1178C>T	ENSP00000376120.3:p.Pro393Leu
ENST00000497019.7:c.1045C>T	ENSP00000436804.2:p.Arg349Trp
ENST00000524377.7:c.1358C>T MANE Select	ENSP00000431418.1:p.Pro453Leu
ENST00000674537.1:c.1178C>T	ENSP00000502725.1:p.Pro393Leu
ENST00000358660.3:c.1340C>T	ENSP00000351486.3:p.Pro447Leu
ENST00000368196.7:c.1340C>T	ENSP00000357179.3:p.Pro447Leu
ENST00000392302.6:c.1250C>T	ENSP00000376120.2:p.Pro417Leu
ENST00000497019.6:c.1117C>T	ENSP00000436804.1:p.Arg373Trp
ENST00000524377.5:c.1358C>T	ENSP00000431418.1:p.Pro453Leu
ENST00000530298.5:n.1398C>T
ENST00000534682.1:n.581C>T
NM_001007792.1:c.1250C>T , LRG_261t1:c.1250C>T	NP_001007793.1:p.Pro417Leu
NM_001012331.1:c.1340C>T , LRG_261t2:c.1340C>T	NP_001012331.1:p.Pro447Leu
NM_002529.3:c.1358C>T , LRG_261t3:c.1358C>T	NP_002520.2:p.Pro453Leu
NM_001012331.2:c.1340C>T	NP_001012331.1:p.Pro447Leu
NM_002529.4:c.1358C>T MANE Select	NP_002520.2:p.Pro453Leu