Canonical Allele Identifier: CA339832875

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312951T>A (hg19) ; chr1:g.39847279T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847279T>A , CM000663.2:g.39847279T>A	GRCh38
NC_000001.10:g.40312951T>A , CM000663.1:g.40312951T>A	GRCh37
NC_000001.9:g.40085538T>A	NCBI36
NG_042822.1:g.41233A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.947A>T MANE Select	ENSP00000321810.5:p.Gln316Leu
ENST00000648678.1:c.1839A>T	ENSP00000497805.1:n.1839A>T
ENST00000316891.9:c.947A>T	ENSP00000321810.5:p.Gln316Leu
ENST00000372818.5:c.928+269A>T	ENSP00000361905.1:n.928+269A>T
ENST00000441669.6:c.701A>T	ENSP00000388333.2:p.Gln234Leu
ENST00000462797.5:c.947A>T	ENSP00000473773.1:p.Gln316Leu
ENST00000465417.5:n.131A>T
ENST00000467774.1:n.229A>T
ENST00000489945.5:c.*365A>T	ENSP00000473745.1:n.*365A>T
ENST00000491865.5:n.182A>T
ENST00000492612.6:c.791A>T
ENST00000495175.6:c.*369A>T	ENSP00000474264.1:n.*369A>T
ENST00000537440.5:c.35A>T	ENSP00000437700.1:p.Gln12Leu
ENST00000541099.5:c.-140-2639A>T	ENSP00000437896.1:n.-140-2639A>T
NM_001312691.1:c.928+269A>T	NP_001299620.1:n.928+269A>T
NM_001312692.1:c.701A>T	NP_001299621.1:p.Gln234Leu
NM_017646.4:c.947A>T	NP_060116.2:p.Gln316Leu
NM_017646.5:c.947A>T	NP_060116.2:p.Gln316Leu
NR_132401.1:n.963A>T
NR_132402.1:n.821A>T
NR_132403.1:n.817A>T
NR_132404.1:n.817A>T
NR_132405.1:n.813A>T
NR_132406.1:n.704A>T
NR_132407.1:n.581A>T
NR_132408.1:n.577A>T
NR_132409.1:n.438A>T
NR_132410.1:n.464A>T
NR_132412.1:n.325A>T
NR_132413.1:n.195-2639A>T
NR_132414.1:n.195-5366A>T
NR_132415.1:n.1054A>T
XM_005270954.1:c.704A>T	XP_005271011.1:p.Gln235Leu
XM_006710706.1:c.524A>T	XP_006710769.1:p.Gln175Leu
XM_005270954.2:c.704A>T	XP_005271011.1:p.Gln235Leu
XR_946672.2:n.1047A>T
NM_017646.6:c.947A>T MANE Select	NP_060116.2:p.Gln316Leu