Canonical Allele Identifier: CA339833211

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313231A>C (hg19) ; chr1:g.39847559A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847559A>C , CM000663.2:g.39847559A>C	GRCh38
NC_000001.10:g.40313231A>C , CM000663.1:g.40313231A>C	GRCh37
NC_000001.9:g.40085818A>C	NCBI36
NG_042822.1:g.40953T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.917T>G MANE Select	ENSP00000321810.5:p.Leu306Arg
ENST00000648678.1:c.1809T>G	ENSP00000497805.1:n.1809T>G
ENST00000316891.9:c.917T>G	ENSP00000321810.5:p.Leu306Arg
ENST00000372818.5:c.917T>G	ENSP00000361905.1:p.Leu306Arg
ENST00000441669.6:c.671T>G	ENSP00000388333.2:p.Leu224Arg
ENST00000462797.5:c.917T>G	ENSP00000473773.1:p.Leu306Arg
ENST00000465417.5:n.113-262T>G
ENST00000467774.1:n.199T>G
ENST00000486825.6:c.822T>G
ENST00000489945.5:c.*335T>G	ENSP00000473745.1:n.*335T>G
ENST00000491865.5:n.164-262T>G
ENST00000492612.6:c.761T>G
ENST00000495175.6:c.*339T>G	ENSP00000474264.1:n.*339T>G
ENST00000537440.5:c.17-262T>G	ENSP00000437700.1:n.17-262T>G
ENST00000541099.5:c.-140-2919T>G	ENSP00000437896.1:n.-140-2919T>G
NM_001312691.1:c.917T>G	NP_001299620.1:p.Leu306Arg
NM_001312692.1:c.671T>G	NP_001299621.1:p.Leu224Arg
NM_017646.4:c.917T>G	NP_060116.2:p.Leu306Arg
NM_017646.5:c.917T>G	NP_060116.2:p.Leu306Arg
NR_132401.1:n.933T>G
NR_132402.1:n.791T>G
NR_132403.1:n.787T>G
NR_132404.1:n.787T>G
NR_132405.1:n.783T>G
NR_132406.1:n.686-262T>G
NR_132407.1:n.551T>G
NR_132408.1:n.547T>G
NR_132409.1:n.408T>G
NR_132410.1:n.446-262T>G
NR_132412.1:n.307-262T>G
NR_132413.1:n.195-2919T>G
NR_132414.1:n.195-5646T>G
NR_132415.1:n.1024T>G
XM_005270954.1:c.674T>G	XP_005271011.1:p.Leu225Arg
XM_006710706.1:c.494T>G	XP_006710769.1:p.Leu165Arg
XM_005270954.2:c.674T>G	XP_005271011.1:p.Leu225Arg
XR_946672.2:n.1017T>G
NM_017646.6:c.917T>G MANE Select	NP_060116.2:p.Leu306Arg