Canonical Allele Identifier: CA339832911

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312955T>G (hg19) ; chr1:g.39847283T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847283T>G , CM000663.2:g.39847283T>G	GRCh38
NC_000001.10:g.40312955T>G , CM000663.1:g.40312955T>G	GRCh37
NC_000001.9:g.40085542T>G	NCBI36
NG_042822.1:g.41229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.943A>C MANE Select	ENSP00000321810.5:p.Lys315Gln
ENST00000648678.1:c.1835A>C	ENSP00000497805.1:n.1835A>C
ENST00000316891.9:c.943A>C	ENSP00000321810.5:p.Lys315Gln
ENST00000372818.5:c.928+265A>C	ENSP00000361905.1:n.928+265A>C
ENST00000441669.6:c.697A>C	ENSP00000388333.2:p.Lys233Gln
ENST00000462797.5:c.943A>C	ENSP00000473773.1:p.Lys315Gln
ENST00000465417.5:n.127A>C
ENST00000467774.1:n.225A>C
ENST00000486825.6:c.848A>C
ENST00000489945.5:c.*361A>C	ENSP00000473745.1:n.*361A>C
ENST00000491865.5:n.178A>C
ENST00000492612.6:c.787A>C
ENST00000495175.6:c.*365A>C	ENSP00000474264.1:n.*365A>C
ENST00000537440.5:c.31A>C	ENSP00000437700.1:p.Lys11Gln
ENST00000541099.5:c.-140-2643A>C	ENSP00000437896.1:n.-140-2643A>C
NM_001312691.1:c.928+265A>C	NP_001299620.1:n.928+265A>C
NM_001312692.1:c.697A>C	NP_001299621.1:p.Lys233Gln
NM_017646.4:c.943A>C	NP_060116.2:p.Lys315Gln
NM_017646.5:c.943A>C	NP_060116.2:p.Lys315Gln
NR_132401.1:n.959A>C
NR_132402.1:n.817A>C
NR_132403.1:n.813A>C
NR_132404.1:n.813A>C
NR_132405.1:n.809A>C
NR_132406.1:n.700A>C
NR_132407.1:n.577A>C
NR_132408.1:n.573A>C
NR_132409.1:n.434A>C
NR_132410.1:n.460A>C
NR_132412.1:n.321A>C
NR_132413.1:n.195-2643A>C
NR_132414.1:n.195-5370A>C
NR_132415.1:n.1050A>C
XM_005270954.1:c.700A>C	XP_005271011.1:p.Lys234Gln
XM_006710706.1:c.520A>C	XP_006710769.1:p.Lys174Gln
XM_005270954.2:c.700A>C	XP_005271011.1:p.Lys234Gln
XR_946672.2:n.1043A>C
NM_017646.6:c.943A>C MANE Select	NP_060116.2:p.Lys315Gln