Canonical Allele Identifier: CA417301767
Gene: TRIT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.40312908T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39847236T>C , CM000663.2:g.39847236T>C GRCh38
NC_000001.10:g.40312908T>C , CM000663.1:g.40312908T>C GRCh37
NC_000001.9:g.40085495T>C NCBI36
NG_042822.1:g.41276A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316891.10:c.990A>G MANE Select ENSP00000321810.5:p.Lys330=
ENST00000648678.1:c.1882A>G ENSP00000497805.1:n.1882A>G
ENST00000316891.9:c.990A>G ENSP00000321810.5:p.Lys330=
ENST00000372818.5:c.928+312A>G ENSP00000361905.1:n.928+312A>G
ENST00000441669.6:c.744A>G ENSP00000388333.2:p.Lys248=
ENST00000462797.5:c.990A>G ENSP00000473773.1:p.Lys330=
ENST00000465417.5:n.174A>G
ENST00000467774.1:n.272A>G
ENST00000489945.5:c.*408A>G ENSP00000473745.1:n.*408A>G
ENST00000491865.5:n.225A>G
ENST00000492612.6:c.834A>G
ENST00000495175.6:c.*412A>G ENSP00000474264.1:n.*412A>G
ENST00000537440.5:c.78A>G ENSP00000437700.1:p.Lys26=
ENST00000541099.5:c.-140-2596A>G ENSP00000437896.1:n.-140-2596A>G
NM_001312691.1:c.928+312A>G NP_001299620.1:n.928+312A>G
NM_001312692.1:c.744A>G NP_001299621.1:p.Lys248=
NM_017646.4:c.990A>G NP_060116.2:p.Lys330=
NM_017646.5:c.990A>G NP_060116.2:p.Lys330=
NR_132401.1:n.1006A>G
NR_132402.1:n.864A>G
NR_132403.1:n.860A>G
NR_132404.1:n.860A>G
NR_132405.1:n.856A>G
NR_132406.1:n.747A>G
NR_132407.1:n.624A>G
NR_132408.1:n.620A>G
NR_132409.1:n.481A>G
NR_132410.1:n.507A>G
NR_132412.1:n.368A>G
NR_132413.1:n.195-2596A>G
NR_132414.1:n.195-5323A>G
NR_132415.1:n.1097A>G
XM_005270954.1:c.747A>G XP_005271011.1:p.Lys249=
XM_006710706.1:c.567A>G XP_006710769.1:p.Lys189=
XM_005270954.2:c.747A>G XP_005271011.1:p.Lys249=
XR_946672.2:n.1090A>G
NM_017646.6:c.990A>G MANE Select NP_060116.2:p.Lys330=