Canonical Allele Identifier: CA1169434

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 234877
• ClinVar RCV Id: RCV000221544 ; RCV001276831 ; RCV000708820 ; RCV002399797
• dbSNP Id: rs764417252
• ExAC: 1:156846220 G / A
• gnomAD v2: 1-156846220-G-A
• gnomAD v3: 1-156876428-G-A
• gnomAD v4: 1-156876428-G-A
• MyVariant Identifiers: chr1:g.156846220G>A (hg19) ; chr1:g.156876428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156876428G>A , CM000663.2:g.156876428G>A	GRCh38
NC_000001.10:g.156846220G>A , CM000663.1:g.156846220G>A	GRCh37
NC_000001.9:g.155112844G>A	NCBI36
NG_007493.1:g.65679G>A , LRG_261:g.65679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1481G>A	ENSP00000502725.1:p.Arg494Gln
ENST00000392302.7:c.1481G>A	ENSP00000376120.3:p.Arg494Gln
ENST00000497019.7:c.*253G>A	ENSP00000436804.2:n.*253G>A
ENST00000524377.7:c.1661G>A MANE Select	ENSP00000431418.1:p.Arg554Gln
ENST00000674537.1:c.1481G>A	ENSP00000502725.1:p.Arg494Gln
ENST00000358660.3:c.1652G>A	ENSP00000351486.3:p.Arg551Gln
ENST00000368196.7:c.1643G>A	ENSP00000357179.3:p.Arg548Gln
ENST00000392302.6:c.1553G>A	ENSP00000376120.2:p.Arg518Gln
ENST00000497019.6:c.*253G>A	ENSP00000436804.1:n.*253G>A
ENST00000524377.5:c.1661G>A	ENSP00000431418.1:p.Arg554Gln
ENST00000530298.5:n.2114G>A
NM_001007792.1:c.1553G>A , LRG_261t1:c.1553G>A	NP_001007793.1:p.Arg518Gln
NM_001012331.1:c.1643G>A , LRG_261t2:c.1643G>A	NP_001012331.1:p.Arg548Gln
NM_002529.3:c.1661G>A , LRG_261t3:c.1661G>A	NP_002520.2:p.Arg554Gln
NM_001012331.2:c.1643G>A	NP_001012331.1:p.Arg548Gln
NM_002529.4:c.1661G>A MANE Select	NP_002520.2:p.Arg554Gln