Canonical Allele Identifier: CA339832915

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312957A>C (hg19) ; chr1:g.39847285A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847285A>C , CM000663.2:g.39847285A>C	GRCh38
NC_000001.10:g.40312957A>C , CM000663.1:g.40312957A>C	GRCh37
NC_000001.9:g.40085544A>C	NCBI36
NG_042822.1:g.41227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.941T>G MANE Select	ENSP00000321810.5:p.Leu314Arg
ENST00000648678.1:c.1833T>G	ENSP00000497805.1:n.1833T>G
ENST00000316891.9:c.941T>G	ENSP00000321810.5:p.Leu314Arg
ENST00000372818.5:c.928+263T>G	ENSP00000361905.1:n.928+263T>G
ENST00000441669.6:c.695T>G	ENSP00000388333.2:p.Leu232Arg
ENST00000462797.5:c.941T>G	ENSP00000473773.1:p.Leu314Arg
ENST00000465417.5:n.125T>G
ENST00000467774.1:n.223T>G
ENST00000486825.6:c.846T>G
ENST00000489945.5:c.*359T>G	ENSP00000473745.1:n.*359T>G
ENST00000491865.5:n.176T>G
ENST00000492612.6:c.785T>G
ENST00000495175.6:c.*363T>G	ENSP00000474264.1:n.*363T>G
ENST00000537440.5:c.29T>G	ENSP00000437700.1:p.Leu10Arg
ENST00000541099.5:c.-140-2645T>G	ENSP00000437896.1:n.-140-2645T>G
NM_001312691.1:c.928+263T>G	NP_001299620.1:n.928+263T>G
NM_001312692.1:c.695T>G	NP_001299621.1:p.Leu232Arg
NM_017646.4:c.941T>G	NP_060116.2:p.Leu314Arg
NM_017646.5:c.941T>G	NP_060116.2:p.Leu314Arg
NR_132401.1:n.957T>G
NR_132402.1:n.815T>G
NR_132403.1:n.811T>G
NR_132404.1:n.811T>G
NR_132405.1:n.807T>G
NR_132406.1:n.698T>G
NR_132407.1:n.575T>G
NR_132408.1:n.571T>G
NR_132409.1:n.432T>G
NR_132410.1:n.458T>G
NR_132412.1:n.319T>G
NR_132413.1:n.195-2645T>G
NR_132414.1:n.195-5372T>G
NR_132415.1:n.1048T>G
XM_005270954.1:c.698T>G	XP_005271011.1:p.Leu233Arg
XM_006710706.1:c.518T>G	XP_006710769.1:p.Leu173Arg
XM_005270954.2:c.698T>G	XP_005271011.1:p.Leu233Arg
XR_946672.2:n.1041T>G
NM_017646.6:c.941T>G MANE Select	NP_060116.2:p.Leu314Arg