Canonical Allele Identifier: CA341876

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 21306
• ClinVar RCV Id: RCV000020469 ; RCV000479042
• dbSNP Id: rs80356676
• gnomAD v3: 1-156879176-C-CT
• gnomAD v4: 1-156879176-C-CT
• MyVariant Identifiers: chr1:g.156848968_156848969insT (hg19) ; chr1:g.156879176_156879177insT (hg38)
• PubMed: PMID:10861667 ; PMID:11668614 ; PMID:20301726

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156879176_156879177insT , CM000663.2:g.156879176_156879177insT	GRCh38
NC_000001.10:g.156848968_156848969insT , CM000663.1:g.156848968_156848969insT	GRCh37
NC_000001.9:g.155115592_155115593insT	NCBI36
NG_007493.1:g.68427_68428insT , LRG_261:g.68427_68428insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.1680_1681insT	ENSP00000502725.1:p.Pro561SerfsTer12
ENST00000392302.7:c.1680_1681insT	ENSP00000376120.3:p.Pro561SerfsTer12
ENST00000497019.7:c.*452_*453insT	ENSP00000436804.2:n.*452_*453insT
ENST00000524377.7:c.1860_1861insT MANE Select	ENSP00000431418.1:p.Pro621SerfsTer12
ENST00000674537.1:c.1680_1681insT	ENSP00000502725.1:p.Pro561SerfsTer12
ENST00000358660.3:c.1851_1852insT	ENSP00000351486.3:p.Pro618SerfsTer12
ENST00000368196.7:c.1842_1843insT	ENSP00000357179.3:p.Pro615SerfsTer12
ENST00000392302.6:c.1752_1753insT	ENSP00000376120.2:p.Pro585SerfsTer12
ENST00000497019.6:c.*452_*453insT	ENSP00000436804.1:n.*452_*453insT
ENST00000524377.5:c.1860_1861insT	ENSP00000431418.1:p.Pro621SerfsTer12
ENST00000530298.5:n.2313_2314insT
NM_001007792.1:c.1752_1753insT , LRG_261t1:c.1752_1753insT	NP_001007793.1:p.Pro585SerfsTer12
NM_001012331.1:c.1842_1843insT , LRG_261t2:c.1842_1843insT	NP_001012331.1:p.Pro615SerfsTer12
NM_002529.3:c.1860_1861insT , LRG_261t3:c.1860_1861insT	NP_002520.2:p.Pro621SerfsTer12
NM_001012331.2:c.1842_1843insT	NP_001012331.1:p.Pro615SerfsTer12
NM_002529.4:c.1860_1861insT MANE Select	NP_002520.2:p.Pro621SerfsTer12