Canonical Allele Identifier: CA342939497

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 2202864
• ClinVar RCV Id: RCV002664188
• dbSNP Id: rs149663928
• gnomAD v4: 1-156879159-G-T
• MyVariant Identifiers: chr1:g.156848951G>T (hg19) ; chr1:g.156879159G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156879159G>T , CM000663.2:g.156879159G>T	GRCh38
NC_000001.10:g.156848951G>T , CM000663.1:g.156848951G>T	GRCh37
NC_000001.9:g.155115575G>T	NCBI36
NG_007493.1:g.68410G>T , LRG_261:g.68410G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.1663G>T	ENSP00000502725.1:p.Glu555Ter
ENST00000392302.7:c.1663G>T	ENSP00000376120.3:p.Glu555Ter
ENST00000497019.7:c.*435G>T	ENSP00000436804.2:n.*435G>T
ENST00000524377.7:c.1843G>T MANE Select	ENSP00000431418.1:p.Glu615Ter
ENST00000674537.1:c.1663G>T	ENSP00000502725.1:p.Glu555Ter
ENST00000358660.3:c.1834G>T	ENSP00000351486.3:p.Glu612Ter
ENST00000368196.7:c.1825G>T	ENSP00000357179.3:p.Glu609Ter
ENST00000392302.6:c.1735G>T	ENSP00000376120.2:p.Glu579Ter
ENST00000497019.6:c.*435G>T	ENSP00000436804.1:n.*435G>T
ENST00000524377.5:c.1843G>T	ENSP00000431418.1:p.Glu615Ter
ENST00000530298.5:n.2296G>T
NM_001007792.1:c.1735G>T , LRG_261t1:c.1735G>T	NP_001007793.1:p.Glu579Ter
NM_001012331.1:c.1825G>T , LRG_261t2:c.1825G>T	NP_001012331.1:p.Glu609Ter
NM_002529.3:c.1843G>T , LRG_261t3:c.1843G>T	NP_002520.2:p.Glu615Ter
NM_001012331.2:c.1825G>T	NP_001012331.1:p.Glu609Ter
NM_002529.4:c.1843G>T MANE Select	NP_002520.2:p.Glu615Ter