Canonical Allele Identifier: CA2573131663
Community Standard Title: NM_002529.4(NTRK1):c.[253C>A;429-1G>C] (p.Arg85Ser)
Gene: NTRK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[156864394C>A;156868103G>C] , CM000663.2:g.[156864394C>A;156868103G>C] GRCh38
NC_000001.10:g.[156834186C>A;156837895G>C] , CM000663.1:g.[156834186C>A;156837895G>C] GRCh37
NC_000001.9:g.[155100810C>A;155104519G>C] NCBI36
NG_007493.1:g.[53645C>A;57354G>C] , LRG_261:g.[53645C>A;57354G>C]

Transcript Alleles

HGVS Amino-acid Change
NM_002529.4:c.[253C>A;429-1G>C] MANE Select NP_002520.2:p.Arg85Ser
ENST00000524377.7:c.[253C>A;429-1G>C] MANE Select ENSP00000431418.1:p.Arg85Ser
NM_001007792.1:c.[163C>A;339-1G>C] , LRG_261t1:c.[163C>A;339-1G>C] NP_001007793.1:p.Arg55Ser
NM_001012331.1:c.[253C>A;429-1G>C] , LRG_261t2:c.[253C>A;429-1G>C] NP_001012331.1:p.Arg85Ser
NM_001012331.2:c.[253C>A;429-1G>C] NP_001012331.1:p.Arg85Ser
NM_002529.3:c.[253C>A;429-1G>C] , LRG_261t3:c.[253C>A;429-1G>C] NP_002520.2:p.Arg85Ser
ENST00000358660.3:c.[253C>A;429-1G>C] ENSP00000351486.3:p.Arg85Ser
ENST00000368196.7:c.[253C>A;429-1G>C] ENSP00000357179.3:p.Arg85Ser
ENST00000392302.6:c.[163C>A;339-1G>C] ENSP00000376120.2:p.Arg55Ser
ENST00000392302.7:c.[91C>A;267-1G>C] ENSP00000376120.3:p.Arg31Ser
ENST00000489021.6:n.[313-9239C>A;313-5530G>C]
ENST00000497019.6:c.[163C>A;339-1G>C] ENSP00000436804.1:p.Arg55Ser
ENST00000497019.7:c.[91C>A;267-1G>C] ENSP00000436804.2:p.Arg31Ser
ENST00000524377.5:c.[253C>A;429-1G>C] ENSP00000431418.1:p.Arg85Ser
ENST00000530298.5:n.[311C>A;487-1G>C]
ENST00000674537.1:c.[91C>A;267-1G>C] ENSP00000502725.1:p.Arg31Ser
ENST00000674537.2:c.[91C>A;267-1G>C] ENSP00000502725.1:p.Arg31Ser