Canonical Allele Identifier: CA339832492

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312897A>C (hg19) ; chr1:g.39847225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847225A>C , CM000663.2:g.39847225A>C	GRCh38
NC_000001.10:g.40312897A>C , CM000663.1:g.40312897A>C	GRCh37
NC_000001.9:g.40085484A>C	NCBI36
NG_042822.1:g.41287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.1001T>G MANE Select	ENSP00000321810.5:p.Leu334Trp
ENST00000648678.1:c.1893T>G	ENSP00000497805.1:n.1893T>G
ENST00000316891.9:c.1001T>G	ENSP00000321810.5:p.Leu334Trp
ENST00000372818.5:c.928+323T>G	ENSP00000361905.1:n.928+323T>G
ENST00000441669.6:c.755T>G	ENSP00000388333.2:p.Leu252Trp
ENST00000462797.5:c.1001T>G	ENSP00000473773.1:p.Leu334Trp
ENST00000465417.5:n.185T>G
ENST00000467774.1:n.283T>G
ENST00000489945.5:c.*419T>G	ENSP00000473745.1:n.*419T>G
ENST00000491865.5:n.236T>G
ENST00000492612.6:c.845T>G
ENST00000495175.6:c.*423T>G	ENSP00000474264.1:n.*423T>G
ENST00000537440.5:c.89T>G	ENSP00000437700.1:p.Leu30Trp
ENST00000541099.5:c.-140-2585T>G	ENSP00000437896.1:n.-140-2585T>G
NM_001312691.1:c.928+323T>G	NP_001299620.1:n.928+323T>G
NM_001312692.1:c.755T>G	NP_001299621.1:p.Leu252Trp
NM_017646.4:c.1001T>G	NP_060116.2:p.Leu334Trp
NM_017646.5:c.1001T>G	NP_060116.2:p.Leu334Trp
NR_132401.1:n.1017T>G
NR_132402.1:n.875T>G
NR_132403.1:n.871T>G
NR_132404.1:n.871T>G
NR_132405.1:n.867T>G
NR_132406.1:n.758T>G
NR_132407.1:n.635T>G
NR_132408.1:n.631T>G
NR_132409.1:n.492T>G
NR_132410.1:n.518T>G
NR_132412.1:n.379T>G
NR_132413.1:n.195-2585T>G
NR_132414.1:n.195-5312T>G
NR_132415.1:n.1108T>G
XM_005270954.1:c.758T>G	XP_005271011.1:p.Leu253Trp
XM_006710706.1:c.578T>G	XP_006710769.1:p.Leu193Trp
XM_005270954.2:c.758T>G	XP_005271011.1:p.Leu253Trp
XR_946672.2:n.1101T>G
NM_017646.6:c.1001T>G MANE Select	NP_060116.2:p.Leu334Trp