Canonical Allele Identifier: CA2565621543
Gene: TRIT1 HGNC NCBI

Linked Data

gnomAD v4: 1-39847433-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847433C>A , CM000663.2:g.39847433C>A GRCh38
NC_000001.10:g.40313105C>A , CM000663.1:g.40313105C>A GRCh37
NC_000001.9:g.40085692C>A NCBI36
NG_042822.1:g.41079G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.928+115G>T MANE Select ENSP00000321810.5:n.928+115G>T
ENST00000648678.1:c.1820+115G>T ENSP00000497805.1:n.1820+115G>T
ENST00000316891.9:c.928+115G>T ENSP00000321810.5:n.928+115G>T
ENST00000372818.5:c.928+115G>T ENSP00000361905.1:n.928+115G>T
ENST00000441669.6:c.682+115G>T ENSP00000388333.2:n.682+115G>T
ENST00000462797.5:c.928+115G>T ENSP00000473773.1:n.928+115G>T
ENST00000465417.5:n.113-136G>T
ENST00000467774.1:n.210+115G>T
ENST00000486825.6:c.833+115G>T
ENST00000489945.5:c.*346+115G>T ENSP00000473745.1:n.*346+115G>T
ENST00000491865.5:n.164-136G>T
ENST00000492612.6:c.772+115G>T
ENST00000495175.6:c.*350+115G>T ENSP00000474264.1:n.*350+115G>T
ENST00000537440.5:c.17-136G>T ENSP00000437700.1:n.17-136G>T
ENST00000541099.5:c.-140-2793G>T ENSP00000437896.1:n.-140-2793G>T
NM_001312691.1:c.928+115G>T NP_001299620.1:n.928+115G>T
NM_001312692.1:c.682+115G>T NP_001299621.1:n.682+115G>T
NM_017646.4:c.928+115G>T NP_060116.2:n.928+115G>T
NM_017646.5:c.928+115G>T NP_060116.2:n.928+115G>T
NR_132401.1:n.944+115G>T
NR_132402.1:n.802+115G>T
NR_132403.1:n.798+115G>T
NR_132404.1:n.798+115G>T
NR_132405.1:n.794+115G>T
NR_132406.1:n.686-136G>T
NR_132407.1:n.562+115G>T
NR_132408.1:n.558+115G>T
NR_132409.1:n.419+115G>T
NR_132410.1:n.446-136G>T
NR_132412.1:n.307-136G>T
NR_132413.1:n.195-2793G>T
NR_132414.1:n.195-5520G>T
NR_132415.1:n.1035+115G>T
XM_005270954.1:c.685+115G>T XP_005271011.1:n.685+115G>T
XM_006710706.1:c.505+115G>T XP_006710769.1:n.505+115G>T
XM_005270954.2:c.685+115G>T XP_005271011.1:n.685+115G>T
XR_946672.2:n.1028+115G>T
NM_017646.6:c.928+115G>T MANE Select NP_060116.2:n.928+115G>T