Canonical Allele Identifier: CA339832917

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312957A>G (hg19) ; chr1:g.39847285A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847285A>G , CM000663.2:g.39847285A>G	GRCh38
NC_000001.10:g.40312957A>G , CM000663.1:g.40312957A>G	GRCh37
NC_000001.9:g.40085544A>G	NCBI36
NG_042822.1:g.41227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.941T>C MANE Select	ENSP00000321810.5:p.Leu314Pro
ENST00000648678.1:c.1833T>C	ENSP00000497805.1:n.1833T>C
ENST00000316891.9:c.941T>C	ENSP00000321810.5:p.Leu314Pro
ENST00000372818.5:c.928+263T>C	ENSP00000361905.1:n.928+263T>C
ENST00000441669.6:c.695T>C	ENSP00000388333.2:p.Leu232Pro
ENST00000462797.5:c.941T>C	ENSP00000473773.1:p.Leu314Pro
ENST00000465417.5:n.125T>C
ENST00000467774.1:n.223T>C
ENST00000486825.6:c.846T>C
ENST00000489945.5:c.*359T>C	ENSP00000473745.1:n.*359T>C
ENST00000491865.5:n.176T>C
ENST00000492612.6:c.785T>C
ENST00000495175.6:c.*363T>C	ENSP00000474264.1:n.*363T>C
ENST00000537440.5:c.29T>C	ENSP00000437700.1:p.Leu10Pro
ENST00000541099.5:c.-140-2645T>C	ENSP00000437896.1:n.-140-2645T>C
NM_001312691.1:c.928+263T>C	NP_001299620.1:n.928+263T>C
NM_001312692.1:c.695T>C	NP_001299621.1:p.Leu232Pro
NM_017646.4:c.941T>C	NP_060116.2:p.Leu314Pro
NM_017646.5:c.941T>C	NP_060116.2:p.Leu314Pro
NR_132401.1:n.957T>C
NR_132402.1:n.815T>C
NR_132403.1:n.811T>C
NR_132404.1:n.811T>C
NR_132405.1:n.807T>C
NR_132406.1:n.698T>C
NR_132407.1:n.575T>C
NR_132408.1:n.571T>C
NR_132409.1:n.432T>C
NR_132410.1:n.458T>C
NR_132412.1:n.319T>C
NR_132413.1:n.195-2645T>C
NR_132414.1:n.195-5372T>C
NR_132415.1:n.1048T>C
XM_005270954.1:c.698T>C	XP_005271011.1:p.Leu233Pro
XM_006710706.1:c.518T>C	XP_006710769.1:p.Leu173Pro
XM_005270954.2:c.698T>C	XP_005271011.1:p.Leu233Pro
XR_946672.2:n.1041T>C
NM_017646.6:c.941T>C MANE Select	NP_060116.2:p.Leu314Pro