Canonical Allele Identifier: CA342937500

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 876646
• ClinVar RCV Id: RCV001101682
• dbSNP Id: rs1647855568
• gnomAD v4: 1-156875613-G-A
• MyVariant Identifiers: chr1:g.156845405G>A (hg19) ; chr1:g.156875613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156875613G>A , CM000663.2:g.156875613G>A	GRCh38
NC_000001.10:g.156845405G>A , CM000663.1:g.156845405G>A	GRCh37
NC_000001.9:g.155112029G>A	NCBI36
NG_007493.1:g.64864G>A , LRG_261:g.64864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1268G>A	ENSP00000502725.1:p.Gly423Asp
ENST00000392302.7:c.1268G>A	ENSP00000376120.3:p.Gly423Asp
ENST00000497019.7:c.*40G>A	ENSP00000436804.2:n.*40G>A
ENST00000524377.7:c.1448G>A MANE Select	ENSP00000431418.1:p.Gly483Asp
ENST00000674537.1:c.1268G>A	ENSP00000502725.1:p.Gly423Asp
ENST00000358660.3:c.1430G>A	ENSP00000351486.3:p.Gly477Asp
ENST00000368196.7:c.1430G>A	ENSP00000357179.3:p.Gly477Asp
ENST00000392302.6:c.1340G>A	ENSP00000376120.2:p.Gly447Asp
ENST00000497019.6:c.*40G>A	ENSP00000436804.1:n.*40G>A
ENST00000524377.5:c.1448G>A	ENSP00000431418.1:p.Gly483Asp
ENST00000530298.5:n.1488G>A
ENST00000534682.1:n.671G>A
NM_001007792.1:c.1340G>A , LRG_261t1:c.1340G>A	NP_001007793.1:p.Gly447Asp
NM_001012331.1:c.1430G>A , LRG_261t2:c.1430G>A	NP_001012331.1:p.Gly477Asp
NM_002529.3:c.1448G>A , LRG_261t3:c.1448G>A	NP_002520.2:p.Gly483Asp
NM_001012331.2:c.1430G>A	NP_001012331.1:p.Gly477Asp
NM_002529.4:c.1448G>A MANE Select	NP_002520.2:p.Gly483Asp