Canonical Allele Identifier: CA645518206

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 1579249
• ClinVar RCV Id: RCV002102441
• dbSNP Id: rs1648251490
• gnomAD v3: 1-156881452-C-T
• gnomAD v4: 1-156881452-C-T
• COSMIC: COSM3979916 ; COSM3979917

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156881452C>T , CM000663.2:g.156881452C>T	GRCh38
NC_000001.10:g.156851244C>T , CM000663.1:g.156851244C>T	GRCh37
NC_000001.9:g.155117868C>T	NCBI36
NG_007493.1:g.70703C>T , LRG_261:g.70703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.2026-5C>T	ENSP00000502725.1:n.2026-5C>T
ENST00000392302.7:c.2026-5C>T	ENSP00000376120.3:n.2026-5C>T
ENST00000497019.7:c.*798-5C>T	ENSP00000436804.2:n.*798-5C>T
ENST00000524377.7:c.2206-5C>T MANE Select	ENSP00000431418.1:n.2206-5C>T
ENST00000531606.2:c.265-5C>T
ENST00000674537.1:c.2026-5C>T	ENSP00000502725.1:n.2026-5C>T
ENST00000358660.3:c.2197-5C>T	ENSP00000351486.3:n.2197-5C>T
ENST00000368196.7:c.2188-5C>T	ENSP00000357179.3:n.2188-5C>T
ENST00000392302.6:c.2098-5C>T	ENSP00000376120.2:n.2098-5C>T
ENST00000497019.6:c.*798-5C>T	ENSP00000436804.1:n.*798-5C>T
ENST00000524377.5:c.2206-5C>T	ENSP00000431418.1:n.2206-5C>T
ENST00000530298.5:n.2659-5C>T
ENST00000531606.1:n.249-5C>T
NM_001007792.1:c.2098-5C>T , LRG_261t1:c.2098-5C>T	NP_001007793.1:n.2098-5C>T
NM_001012331.1:c.2188-5C>T , LRG_261t2:c.2188-5C>T	NP_001012331.1:n.2188-5C>T
NM_002529.3:c.2206-5C>T , LRG_261t3:c.2206-5C>T	NP_002520.2:n.2206-5C>T
NM_001012331.2:c.2188-5C>T	NP_001012331.1:n.2188-5C>T
NM_002529.4:c.2206-5C>T MANE Select	NP_002520.2:n.2206-5C>T