Canonical Allele Identifier: CA417301878

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312956C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847284C>A , CM000663.2:g.39847284C>A	GRCh38
NC_000001.10:g.40312956C>A , CM000663.1:g.40312956C>A	GRCh37
NC_000001.9:g.40085543C>A	NCBI36
NG_042822.1:g.41228G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.942G>T MANE Select	ENSP00000321810.5:p.Leu314=
ENST00000648678.1:c.1834G>T	ENSP00000497805.1:n.1834G>T
ENST00000316891.9:c.942G>T	ENSP00000321810.5:p.Leu314=
ENST00000372818.5:c.928+264G>T	ENSP00000361905.1:n.928+264G>T
ENST00000441669.6:c.696G>T	ENSP00000388333.2:p.Leu232=
ENST00000462797.5:c.942G>T	ENSP00000473773.1:p.Leu314=
ENST00000465417.5:n.126G>T
ENST00000467774.1:n.224G>T
ENST00000486825.6:c.847G>T
ENST00000489945.5:c.*360G>T	ENSP00000473745.1:n.*360G>T
ENST00000491865.5:n.177G>T
ENST00000492612.6:c.786G>T
ENST00000495175.6:c.*364G>T	ENSP00000474264.1:n.*364G>T
ENST00000537440.5:c.30G>T	ENSP00000437700.1:p.Leu10=
ENST00000541099.5:c.-140-2644G>T	ENSP00000437896.1:n.-140-2644G>T
NM_001312691.1:c.928+264G>T	NP_001299620.1:n.928+264G>T
NM_001312692.1:c.696G>T	NP_001299621.1:p.Leu232=
NM_017646.4:c.942G>T	NP_060116.2:p.Leu314=
NM_017646.5:c.942G>T	NP_060116.2:p.Leu314=
NR_132401.1:n.958G>T
NR_132402.1:n.816G>T
NR_132403.1:n.812G>T
NR_132404.1:n.812G>T
NR_132405.1:n.808G>T
NR_132406.1:n.699G>T
NR_132407.1:n.576G>T
NR_132408.1:n.572G>T
NR_132409.1:n.433G>T
NR_132410.1:n.459G>T
NR_132412.1:n.320G>T
NR_132413.1:n.195-2644G>T
NR_132414.1:n.195-5371G>T
NR_132415.1:n.1049G>T
XM_005270954.1:c.699G>T	XP_005271011.1:p.Leu233=
XM_006710706.1:c.519G>T	XP_006710769.1:p.Leu173=
XM_005270954.2:c.699G>T	XP_005271011.1:p.Leu233=
XR_946672.2:n.1042G>T
NM_017646.6:c.942G>T MANE Select	NP_060116.2:p.Leu314=