Canonical Allele Identifier: CA421140610

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 1655139
• ClinVar RCV Id: RCV002156591
• dbSNP Id: rs2102930709
• gnomAD v4: 1-156881489-G-A
• MyVariant Identifiers: chr1:g.156851281G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156881489G>A , CM000663.2:g.156881489G>A	GRCh38
NC_000001.10:g.156851281G>A , CM000663.1:g.156851281G>A	GRCh37
NC_000001.9:g.155117905G>A	NCBI36
NG_007493.1:g.70740G>A , LRG_261:g.70740G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.2058G>A	ENSP00000502725.1:p.Leu686=
ENST00000392302.7:c.2058G>A	ENSP00000376120.3:p.Leu686=
ENST00000497019.7:c.*830G>A	ENSP00000436804.2:n.*830G>A
ENST00000524377.7:c.2238G>A MANE Select	ENSP00000431418.1:p.Leu746=
ENST00000531606.2:c.297G>A
ENST00000674537.1:c.2058G>A	ENSP00000502725.1:p.Leu686=
ENST00000358660.3:c.2229G>A	ENSP00000351486.3:p.Leu743=
ENST00000368196.7:c.2220G>A	ENSP00000357179.3:p.Leu740=
ENST00000392302.6:c.2130G>A	ENSP00000376120.2:p.Leu710=
ENST00000497019.6:c.*830G>A	ENSP00000436804.1:n.*830G>A
ENST00000524377.5:c.2238G>A	ENSP00000431418.1:p.Leu746=
ENST00000530298.5:n.2691G>A
ENST00000531606.1:n.281G>A
NM_001007792.1:c.2130G>A , LRG_261t1:c.2130G>A	NP_001007793.1:p.Leu710=
NM_001012331.1:c.2220G>A , LRG_261t2:c.2220G>A	NP_001012331.1:p.Leu740=
NM_002529.3:c.2238G>A , LRG_261t3:c.2238G>A	NP_002520.2:p.Leu746=
NM_001012331.2:c.2220G>A	NP_001012331.1:p.Leu740=
NM_002529.4:c.2238G>A MANE Select	NP_002520.2:p.Leu746=