Canonical Allele Identifier: CA339832959

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312963T>A (hg19) ; chr1:g.39847291T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847291T>A , CM000663.2:g.39847291T>A	GRCh38
NC_000001.10:g.40312963T>A , CM000663.1:g.40312963T>A	GRCh37
NC_000001.9:g.40085550T>A	NCBI36
NG_042822.1:g.41221A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.935A>T MANE Select	ENSP00000321810.5:p.Glu312Val
ENST00000648678.1:c.1827A>T	ENSP00000497805.1:n.1827A>T
ENST00000316891.9:c.935A>T	ENSP00000321810.5:p.Glu312Val
ENST00000372818.5:c.928+257A>T	ENSP00000361905.1:n.928+257A>T
ENST00000441669.6:c.689A>T	ENSP00000388333.2:p.Glu230Val
ENST00000462797.5:c.935A>T	ENSP00000473773.1:p.Glu312Val
ENST00000465417.5:n.119A>T
ENST00000467774.1:n.217A>T
ENST00000486825.6:c.840A>T
ENST00000489945.5:c.*353A>T	ENSP00000473745.1:n.*353A>T
ENST00000491865.5:n.170A>T
ENST00000492612.6:c.779A>T
ENST00000495175.6:c.*357A>T	ENSP00000474264.1:n.*357A>T
ENST00000537440.5:c.23A>T	ENSP00000437700.1:p.Glu8Val
ENST00000541099.5:c.-140-2651A>T	ENSP00000437896.1:n.-140-2651A>T
NM_001312691.1:c.928+257A>T	NP_001299620.1:n.928+257A>T
NM_001312692.1:c.689A>T	NP_001299621.1:p.Glu230Val
NM_017646.4:c.935A>T	NP_060116.2:p.Glu312Val
NM_017646.5:c.935A>T	NP_060116.2:p.Glu312Val
NR_132401.1:n.951A>T
NR_132402.1:n.809A>T
NR_132403.1:n.805A>T
NR_132404.1:n.805A>T
NR_132405.1:n.801A>T
NR_132406.1:n.692A>T
NR_132407.1:n.569A>T
NR_132408.1:n.565A>T
NR_132409.1:n.426A>T
NR_132410.1:n.452A>T
NR_132412.1:n.313A>T
NR_132413.1:n.195-2651A>T
NR_132414.1:n.195-5378A>T
NR_132415.1:n.1042A>T
XM_005270954.1:c.692A>T	XP_005271011.1:p.Glu231Val
XM_006710706.1:c.512A>T	XP_006710769.1:p.Glu171Val
XM_005270954.2:c.692A>T	XP_005271011.1:p.Glu231Val
XR_946672.2:n.1035A>T
NM_017646.6:c.935A>T MANE Select	NP_060116.2:p.Glu312Val