Canonical Allele Identifier: CA1169061

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 526734
• ClinVar RCV Id: RCV000631337 ; RCV002360506 ; RCV000790288
• dbSNP Id: rs747711259
• ExAC: 1:156838360 T / C
• gnomAD v2: 1-156838360-T-C
• gnomAD v3: 1-156868568-T-C
• gnomAD v4: 1-156868568-T-C
• MyVariant Identifiers: chr1:g.156838360T>C (hg19) ; chr1:g.156868568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156868568T>C , CM000663.2:g.156868568T>C	GRCh38
NC_000001.10:g.156838360T>C , CM000663.1:g.156838360T>C	GRCh37
NC_000001.9:g.155104984T>C	NCBI36
NG_007493.1:g.57819T>C , LRG_261:g.57819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.476T>C	ENSP00000502725.1:p.Leu159Pro
ENST00000392302.7:c.476T>C	ENSP00000376120.3:p.Leu159Pro
ENST00000497019.7:c.476T>C	ENSP00000436804.2:p.Leu159Pro
ENST00000524377.7:c.638T>C MANE Select	ENSP00000431418.1:p.Leu213Pro
ENST00000674537.1:c.476T>C	ENSP00000502725.1:p.Leu159Pro
ENST00000358660.3:c.638T>C	ENSP00000351486.3:p.Leu213Pro
ENST00000368196.7:c.638T>C	ENSP00000357179.3:p.Leu213Pro
ENST00000392302.6:c.548T>C	ENSP00000376120.2:p.Leu183Pro
ENST00000489021.6:n.313-5065T>C
ENST00000497019.6:c.548T>C	ENSP00000436804.1:p.Leu183Pro
ENST00000524377.5:c.638T>C	ENSP00000431418.1:p.Leu213Pro
ENST00000530298.5:n.696T>C
NM_001007792.1:c.548T>C , LRG_261t1:c.548T>C	NP_001007793.1:p.Leu183Pro
NM_001012331.1:c.638T>C , LRG_261t2:c.638T>C	NP_001012331.1:p.Leu213Pro
NM_002529.3:c.638T>C , LRG_261t3:c.638T>C	NP_002520.2:p.Leu213Pro
NM_001012331.2:c.638T>C	NP_001012331.1:p.Leu213Pro
NM_002529.4:c.638T>C MANE Select	NP_002520.2:p.Leu213Pro