Canonical Allele Identifier: CA31118730

Gene: NTRK1

Linked Data

• ClinVar Variation Id: 1437216
• ClinVar RCV Id: RCV001946562
• dbSNP Id: rs764417252
• gnomAD v3: 1-156876428-G-C
• gnomAD v4: 1-156876428-G-C
• MyVariant Identifiers: chr1:g.156846220G>C (hg19) ; chr1:g.156876428G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000674537.2:c.1481G>C	ENSP00000502725.1:p.Arg494Pro
ENST00000392302.7:c.1481G>C	ENSP00000376120.3:p.Arg494Pro
ENST00000497019.7:c.*253G>C	ENSP00000436804.2:n.*253G>C
ENST00000524377.7:c.1661G>C MANE Select	ENSP00000431418.1:p.Arg554Pro
ENST00000674537.1:c.1481G>C	ENSP00000502725.1:p.Arg494Pro
ENST00000358660.3:c.1652G>C	ENSP00000351486.3:p.Arg551Pro
ENST00000368196.7:c.1643G>C	ENSP00000357179.3:p.Arg548Pro
ENST00000392302.6:c.1553G>C	ENSP00000376120.2:p.Arg518Pro
ENST00000497019.6:c.*253G>C	ENSP00000436804.1:n.*253G>C
ENST00000524377.5:c.1661G>C	ENSP00000431418.1:p.Arg554Pro
ENST00000530298.5:n.2114G>C
NM_001007792.1:c.1553G>C , LRG_261t1:c.1553G>C	NP_001007793.1:p.Arg518Pro
NM_001012331.1:c.1643G>C , LRG_261t2:c.1643G>C	NP_001012331.1:p.Arg548Pro
NM_002529.3:c.1661G>C , LRG_261t3:c.1661G>C	NP_002520.2:p.Arg554Pro
NM_001012331.2:c.1643G>C	NP_001012331.1:p.Arg548Pro
NM_002529.4:c.1661G>C MANE Select	NP_002520.2:p.Arg554Pro