Canonical Allele Identifier: CA2645075462
Gene: TRIT1 HGNC NCBI

Linked Data

gnomAD v4: 1-39847455-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847455C>G , CM000663.2:g.39847455C>G GRCh38
NC_000001.10:g.40313127C>G , CM000663.1:g.40313127C>G GRCh37
NC_000001.9:g.40085714C>G NCBI36
NG_042822.1:g.41057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.928+93G>C MANE Select ENSP00000321810.5:n.928+93G>C
ENST00000648678.1:c.1820+93G>C ENSP00000497805.1:n.1820+93G>C
ENST00000316891.9:c.928+93G>C ENSP00000321810.5:n.928+93G>C
ENST00000372818.5:c.928+93G>C ENSP00000361905.1:n.928+93G>C
ENST00000441669.6:c.682+93G>C ENSP00000388333.2:n.682+93G>C
ENST00000462797.5:c.928+93G>C ENSP00000473773.1:n.928+93G>C
ENST00000465417.5:n.113-158G>C
ENST00000467774.1:n.210+93G>C
ENST00000486825.6:c.833+93G>C
ENST00000489945.5:c.*346+93G>C ENSP00000473745.1:n.*346+93G>C
ENST00000491865.5:n.164-158G>C
ENST00000492612.6:c.772+93G>C
ENST00000495175.6:c.*350+93G>C ENSP00000474264.1:n.*350+93G>C
ENST00000537440.5:c.17-158G>C ENSP00000437700.1:n.17-158G>C
ENST00000541099.5:c.-140-2815G>C ENSP00000437896.1:n.-140-2815G>C
NM_001312691.1:c.928+93G>C NP_001299620.1:n.928+93G>C
NM_001312692.1:c.682+93G>C NP_001299621.1:n.682+93G>C
NM_017646.4:c.928+93G>C NP_060116.2:n.928+93G>C
NM_017646.5:c.928+93G>C NP_060116.2:n.928+93G>C
NR_132401.1:n.944+93G>C
NR_132402.1:n.802+93G>C
NR_132403.1:n.798+93G>C
NR_132404.1:n.798+93G>C
NR_132405.1:n.794+93G>C
NR_132406.1:n.686-158G>C
NR_132407.1:n.562+93G>C
NR_132408.1:n.558+93G>C
NR_132409.1:n.419+93G>C
NR_132410.1:n.446-158G>C
NR_132412.1:n.307-158G>C
NR_132413.1:n.195-2815G>C
NR_132414.1:n.195-5542G>C
NR_132415.1:n.1035+93G>C
XM_005270954.1:c.685+93G>C XP_005271011.1:n.685+93G>C
XM_006710706.1:c.505+93G>C XP_006710769.1:n.505+93G>C
XM_005270954.2:c.685+93G>C XP_005271011.1:n.685+93G>C
XR_946672.2:n.1028+93G>C
NM_017646.6:c.928+93G>C MANE Select NP_060116.2:n.928+93G>C