Canonical Allele Identifier: CA417301789

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312919G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847247G>T , CM000663.2:g.39847247G>T	GRCh38
NC_000001.10:g.40312919G>T , CM000663.1:g.40312919G>T	GRCh37
NC_000001.9:g.40085506G>T	NCBI36
NG_042822.1:g.41265C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.979C>A MANE Select	ENSP00000321810.5:p.Arg327=
ENST00000648678.1:c.1871C>A	ENSP00000497805.1:n.1871C>A
ENST00000316891.9:c.979C>A	ENSP00000321810.5:p.Arg327=
ENST00000372818.5:c.928+301C>A	ENSP00000361905.1:n.928+301C>A
ENST00000441669.6:c.733C>A	ENSP00000388333.2:p.Arg245=
ENST00000462797.5:c.979C>A	ENSP00000473773.1:p.Arg327=
ENST00000465417.5:n.163C>A
ENST00000467774.1:n.261C>A
ENST00000489945.5:c.*397C>A	ENSP00000473745.1:n.*397C>A
ENST00000491865.5:n.214C>A
ENST00000492612.6:c.823C>A
ENST00000495175.6:c.*401C>A	ENSP00000474264.1:n.*401C>A
ENST00000537440.5:c.67C>A	ENSP00000437700.1:p.Arg23=
ENST00000541099.5:c.-140-2607C>A	ENSP00000437896.1:n.-140-2607C>A
NM_001312691.1:c.928+301C>A	NP_001299620.1:n.928+301C>A
NM_001312692.1:c.733C>A	NP_001299621.1:p.Arg245=
NM_017646.4:c.979C>A	NP_060116.2:p.Arg327=
NM_017646.5:c.979C>A	NP_060116.2:p.Arg327=
NR_132401.1:n.995C>A
NR_132402.1:n.853C>A
NR_132403.1:n.849C>A
NR_132404.1:n.849C>A
NR_132405.1:n.845C>A
NR_132406.1:n.736C>A
NR_132407.1:n.613C>A
NR_132408.1:n.609C>A
NR_132409.1:n.470C>A
NR_132410.1:n.496C>A
NR_132412.1:n.357C>A
NR_132413.1:n.195-2607C>A
NR_132414.1:n.195-5334C>A
NR_132415.1:n.1086C>A
XM_005270954.1:c.736C>A	XP_005271011.1:p.Arg246=
XM_006710706.1:c.556C>A	XP_006710769.1:p.Arg186=
XM_005270954.2:c.736C>A	XP_005271011.1:p.Arg246=
XR_946672.2:n.1079C>A
NM_017646.6:c.979C>A MANE Select	NP_060116.2:p.Arg327=