Canonical Allele Identifier: CA1168942

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 292875
• ClinVar RCV Id: RCV002365331 ; RCV000274129
• dbSNP Id: rs757803799
• ExAC: 1:156836717 C / T
• gnomAD v2: 1-156836717-C-T
• gnomAD v3: 1-156866925-C-T
• gnomAD v4: 1-156866925-C-T
• COSMIC: COSM2149584 ; COSM2149585
• MyVariant Identifiers: chr1:g.156836717C>T (hg19) ; chr1:g.156866925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156866925C>T , CM000663.2:g.156866925C>T	GRCh38
NC_000001.10:g.156836717C>T , CM000663.1:g.156836717C>T	GRCh37
NC_000001.9:g.155103341C>T	NCBI36
NG_007493.1:g.56176C>T , LRG_261:g.56176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674537.2:c.213C>T	ENSP00000502725.1:p.Asn71=
ENST00000392302.7:c.213C>T	ENSP00000376120.3:p.Asn71=
ENST00000497019.7:c.213C>T	ENSP00000436804.2:p.Asn71=
ENST00000524377.7:c.375C>T MANE Select	ENSP00000431418.1:p.Asn125=
ENST00000674537.1:c.213C>T	ENSP00000502725.1:p.Asn71=
ENST00000358660.3:c.375C>T	ENSP00000351486.3:p.Asn125=
ENST00000368196.7:c.375C>T	ENSP00000357179.3:p.Asn125=
ENST00000392302.6:c.285C>T	ENSP00000376120.2:p.Asn95=
ENST00000489021.6:n.313-6708C>T
ENST00000497019.6:c.285C>T	ENSP00000436804.1:p.Asn95=
ENST00000524377.5:c.375C>T	ENSP00000431418.1:p.Asn125=
ENST00000530298.5:n.433C>T
NM_001007792.1:c.285C>T , LRG_261t1:c.285C>T	NP_001007793.1:p.Asn95=
NM_001012331.1:c.375C>T , LRG_261t2:c.375C>T	NP_001012331.1:p.Asn125=
NM_002529.3:c.375C>T , LRG_261t3:c.375C>T	NP_002520.2:p.Asn125=
NM_001012331.2:c.375C>T	NP_001012331.1:p.Asn125=
NM_002529.4:c.375C>T MANE Select	NP_002520.2:p.Asn125=