Canonical Allele Identifier: CA1168093
Community Standard Title: NM_014215.3(INSRR):c.2289G>A (p.Gln763=)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156845224C>T , CM000663.2:g.156845224C>T GRCh38
NC_000001.10:g.156815016C>T , CM000663.1:g.156815016C>T GRCh37
NC_000001.9:g.155081640C>T NCBI36
NG_007493.1:g.34475C>T , LRG_261:g.34475C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014215.3:c.2289G>A (INSRR) MANE Select NP_055030.1:p.Gln763=
ENST00000368195.4:c.2289G>A (INSRR) MANE Select ENSP00000357178.3:p.Gln763=
NM_001007792.1:c.122+3031C>T , LRG_261t1:c.122+3031C>T (NTRK1) NP_001007793.1:n.122+3031C>T
NM_014215.2:c.2289G>A (INSRR) NP_055030.1:p.Gln763=
ENST00000368195.3:c.2289G>A (INSRR) ENSP00000357178.3:p.Gln763=
ENST00000392302.6:c.122+3031C>T (NTRK1) ENSP00000376120.2:n.122+3031C>T
ENST00000392302.7:c.50+3031C>T (NTRK1) ENSP00000376120.3:n.50+3031C>T
ENST00000489021.6:n.312+3031C>T (NTRK1)
ENST00000497019.6:c.122+3031C>T (NTRK1) ENSP00000436804.1:n.122+3031C>T
ENST00000497019.7:c.50+3031C>T (NTRK1) ENSP00000436804.2:n.50+3031C>T
ENST00000530298.5:n.270+3031C>T (NTRK1)
ENST00000674537.1:c.50+3031C>T (NTRK1) ENSP00000502725.1:n.50+3031C>T
ENST00000674537.2:c.50+3031C>T (NTRK1) ENSP00000502725.1:n.50+3031C>T