Canonical Allele Identifier: CA417302029
Gene: TRIT1 HGNC NCBI

Linked Data

gnomAD v4: 1-39847561-C-T
MyVariant Identifiers: chr1:g.40313233C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847561C>T , CM000663.2:g.39847561C>T GRCh38
NC_000001.10:g.40313233C>T , CM000663.1:g.40313233C>T GRCh37
NC_000001.9:g.40085820C>T NCBI36
NG_042822.1:g.40951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.915G>A MANE Select ENSP00000321810.5:p.Gln305=
ENST00000648678.1:c.1807G>A ENSP00000497805.1:n.1807G>A
ENST00000316891.9:c.915G>A ENSP00000321810.5:p.Gln305=
ENST00000372818.5:c.915G>A ENSP00000361905.1:p.Gln305=
ENST00000441669.6:c.669G>A ENSP00000388333.2:p.Gln223=
ENST00000462797.5:c.915G>A ENSP00000473773.1:p.Gln305=
ENST00000465417.5:n.113-264G>A
ENST00000467774.1:n.197G>A
ENST00000486825.6:c.820G>A
ENST00000489945.5:c.*333G>A ENSP00000473745.1:n.*333G>A
ENST00000491865.5:n.164-264G>A
ENST00000492612.6:c.759G>A
ENST00000495175.6:c.*337G>A ENSP00000474264.1:n.*337G>A
ENST00000537440.5:c.17-264G>A ENSP00000437700.1:n.17-264G>A
ENST00000541099.5:c.-140-2921G>A ENSP00000437896.1:n.-140-2921G>A
NM_001312691.1:c.915G>A NP_001299620.1:p.Gln305=
NM_001312692.1:c.669G>A NP_001299621.1:p.Gln223=
NM_017646.4:c.915G>A NP_060116.2:p.Gln305=
NM_017646.5:c.915G>A NP_060116.2:p.Gln305=
NR_132401.1:n.931G>A
NR_132402.1:n.789G>A
NR_132403.1:n.785G>A
NR_132404.1:n.785G>A
NR_132405.1:n.781G>A
NR_132406.1:n.686-264G>A
NR_132407.1:n.549G>A
NR_132408.1:n.545G>A
NR_132409.1:n.406G>A
NR_132410.1:n.446-264G>A
NR_132412.1:n.307-264G>A
NR_132413.1:n.195-2921G>A
NR_132414.1:n.195-5648G>A
NR_132415.1:n.1022G>A
XM_005270954.1:c.672G>A XP_005271011.1:p.Gln224=
XM_006710706.1:c.492G>A XP_006710769.1:p.Gln164=
XM_005270954.2:c.672G>A XP_005271011.1:p.Gln224=
XR_946672.2:n.1015G>A
NM_017646.6:c.915G>A MANE Select NP_060116.2:p.Gln305=