Canonical Allele Identifier: CA1167931
Community Standard Title: NM_014215.3(INSRR):c.2783C>T (p.Pro928Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156844235G>A , CM000663.2:g.156844235G>A GRCh38
NC_000001.10:g.156814027G>A , CM000663.1:g.156814027G>A GRCh37
NC_000001.9:g.155080651G>A NCBI36
NG_007493.1:g.33486G>A , LRG_261:g.33486G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014215.3:c.2783C>T (INSRR) MANE Select NP_055030.1:p.Pro928Leu
ENST00000368195.4:c.2783C>T (INSRR) MANE Select ENSP00000357178.3:p.Pro928Leu
NM_001007792.1:c.122+2042G>A , LRG_261t1:c.122+2042G>A (NTRK1) NP_001007793.1:n.122+2042G>A
NM_014215.2:c.2783C>T (INSRR) NP_055030.1:p.Pro928Leu
ENST00000368195.3:c.2783C>T (INSRR) ENSP00000357178.3:p.Pro928Leu
ENST00000392302.6:c.122+2042G>A (NTRK1) ENSP00000376120.2:n.122+2042G>A
ENST00000392302.7:c.50+2042G>A (NTRK1) ENSP00000376120.3:n.50+2042G>A
ENST00000489021.6:n.312+2042G>A (NTRK1)
ENST00000497019.6:c.122+2042G>A (NTRK1) ENSP00000436804.1:n.122+2042G>A
ENST00000497019.7:c.50+2042G>A (NTRK1) ENSP00000436804.2:n.50+2042G>A
ENST00000530298.5:n.270+2042G>A (NTRK1)
ENST00000674537.1:c.50+2042G>A (NTRK1) ENSP00000502725.1:n.50+2042G>A
ENST00000674537.2:c.50+2042G>A (NTRK1) ENSP00000502725.1:n.50+2042G>A