Canonical Allele Identifier: CA339832694

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312925G>C (hg19) ; chr1:g.39847253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847253G>C , CM000663.2:g.39847253G>C	GRCh38
NC_000001.10:g.40312925G>C , CM000663.1:g.40312925G>C	GRCh37
NC_000001.9:g.40085512G>C	NCBI36
NG_042822.1:g.41259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.973C>G MANE Select	ENSP00000321810.5:p.Gln325Glu
ENST00000648678.1:c.1865C>G	ENSP00000497805.1:n.1865C>G
ENST00000316891.9:c.973C>G	ENSP00000321810.5:p.Gln325Glu
ENST00000372818.5:c.928+295C>G	ENSP00000361905.1:n.928+295C>G
ENST00000441669.6:c.727C>G	ENSP00000388333.2:p.Gln243Glu
ENST00000462797.5:c.973C>G	ENSP00000473773.1:p.Gln325Glu
ENST00000465417.5:n.157C>G
ENST00000467774.1:n.255C>G
ENST00000489945.5:c.*391C>G	ENSP00000473745.1:n.*391C>G
ENST00000491865.5:n.208C>G
ENST00000492612.6:c.817C>G
ENST00000495175.6:c.*395C>G	ENSP00000474264.1:n.*395C>G
ENST00000537440.5:c.61C>G	ENSP00000437700.1:p.Gln21Glu
ENST00000541099.5:c.-140-2613C>G	ENSP00000437896.1:n.-140-2613C>G
NM_001312691.1:c.928+295C>G	NP_001299620.1:n.928+295C>G
NM_001312692.1:c.727C>G	NP_001299621.1:p.Gln243Glu
NM_017646.4:c.973C>G	NP_060116.2:p.Gln325Glu
NM_017646.5:c.973C>G	NP_060116.2:p.Gln325Glu
NR_132401.1:n.989C>G
NR_132402.1:n.847C>G
NR_132403.1:n.843C>G
NR_132404.1:n.843C>G
NR_132405.1:n.839C>G
NR_132406.1:n.730C>G
NR_132407.1:n.607C>G
NR_132408.1:n.603C>G
NR_132409.1:n.464C>G
NR_132410.1:n.490C>G
NR_132412.1:n.351C>G
NR_132413.1:n.195-2613C>G
NR_132414.1:n.195-5340C>G
NR_132415.1:n.1080C>G
XM_005270954.1:c.730C>G	XP_005271011.1:p.Gln244Glu
XM_006710706.1:c.550C>G	XP_006710769.1:p.Gln184Glu
XM_005270954.2:c.730C>G	XP_005271011.1:p.Gln244Glu
XR_946672.2:n.1073C>G
NM_017646.6:c.973C>G MANE Select	NP_060116.2:p.Gln325Glu