Canonical Allele Identifier: CA1169385

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 1590156
• ClinVar RCV Id: RCV002101373
• dbSNP Id: rs200301690
• ExAC: 1:156845966 C / T
• gnomAD v2: 1-156845966-C-T
• gnomAD v3: 1-156876174-C-T
• gnomAD v4: 1-156876174-C-T
• MyVariant Identifiers: chr1:g.156845966C>T (hg19) ; chr1:g.156876174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156876174C>T , CM000663.2:g.156876174C>T	GRCh38
NC_000001.10:g.156845966C>T , CM000663.1:g.156845966C>T	GRCh37
NC_000001.9:g.155112590C>T	NCBI36
NG_007493.1:g.65425C>T , LRG_261:g.65425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1416C>T	ENSP00000502725.1:p.Leu472=
ENST00000392302.7:c.1416C>T	ENSP00000376120.3:p.Leu472=
ENST00000497019.7:c.*188C>T	ENSP00000436804.2:n.*188C>T
ENST00000524377.7:c.1596C>T MANE Select	ENSP00000431418.1:p.Leu532=
ENST00000674537.1:c.1416C>T	ENSP00000502725.1:p.Leu472=
ENST00000358660.3:c.1587C>T	ENSP00000351486.3:p.Leu529=
ENST00000368196.7:c.1578C>T	ENSP00000357179.3:p.Leu526=
ENST00000392302.6:c.1488C>T	ENSP00000376120.2:p.Leu496=
ENST00000497019.6:c.*188C>T	ENSP00000436804.1:n.*188C>T
ENST00000524377.5:c.1596C>T	ENSP00000431418.1:p.Leu532=
ENST00000530298.5:n.2049C>T
ENST00000534682.1:n.819C>T
NM_001007792.1:c.1488C>T , LRG_261t1:c.1488C>T	NP_001007793.1:p.Leu496=
NM_001012331.1:c.1578C>T , LRG_261t2:c.1578C>T	NP_001012331.1:p.Leu526=
NM_002529.3:c.1596C>T , LRG_261t3:c.1596C>T	NP_002520.2:p.Leu532=
NM_001012331.2:c.1578C>T	NP_001012331.1:p.Leu526=
NM_002529.4:c.1596C>T MANE Select	NP_002520.2:p.Leu532=