Canonical Allele Identifier: CA421138606

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 1989805
• ClinVar RCV Id: RCV002786695
• dbSNP Id: rs2102919264
• MyVariant Identifiers: chr1:g.156846230C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156876438C>T , CM000663.2:g.156876438C>T	GRCh38
NC_000001.10:g.156846230C>T , CM000663.1:g.156846230C>T	GRCh37
NC_000001.9:g.155112854C>T	NCBI36
NG_007493.1:g.65689C>T , LRG_261:g.65689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1491C>T	ENSP00000502725.1:p.Phe497=
ENST00000392302.7:c.1491C>T	ENSP00000376120.3:p.Phe497=
ENST00000497019.7:c.*263C>T	ENSP00000436804.2:n.*263C>T
ENST00000524377.7:c.1671C>T MANE Select	ENSP00000431418.1:p.Phe557=
ENST00000674537.1:c.1491C>T	ENSP00000502725.1:p.Phe497=
ENST00000358660.3:c.1662C>T	ENSP00000351486.3:p.Phe554=
ENST00000368196.7:c.1653C>T	ENSP00000357179.3:p.Phe551=
ENST00000392302.6:c.1563C>T	ENSP00000376120.2:p.Phe521=
ENST00000497019.6:c.*263C>T	ENSP00000436804.1:n.*263C>T
ENST00000524377.5:c.1671C>T	ENSP00000431418.1:p.Phe557=
ENST00000530298.5:n.2124C>T
NM_001007792.1:c.1563C>T , LRG_261t1:c.1563C>T	NP_001007793.1:p.Phe521=
NM_001012331.1:c.1653C>T , LRG_261t2:c.1653C>T	NP_001012331.1:p.Phe551=
NM_002529.3:c.1671C>T , LRG_261t3:c.1671C>T	NP_002520.2:p.Phe557=
NM_001012331.2:c.1653C>T	NP_001012331.1:p.Phe551=
NM_002529.4:c.1671C>T MANE Select	NP_002520.2:p.Phe557=