Canonical Allele Identifier: CA339832789

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312939C>A (hg19) ; chr1:g.39847267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847267C>A , CM000663.2:g.39847267C>A	GRCh38
NC_000001.10:g.40312939C>A , CM000663.1:g.40312939C>A	GRCh37
NC_000001.9:g.40085526C>A	NCBI36
NG_042822.1:g.41245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.959G>T MANE Select	ENSP00000321810.5:p.Arg320Ile
ENST00000648678.1:c.1851G>T	ENSP00000497805.1:n.1851G>T
ENST00000316891.9:c.959G>T	ENSP00000321810.5:p.Arg320Ile
ENST00000372818.5:c.928+281G>T	ENSP00000361905.1:n.928+281G>T
ENST00000441669.6:c.713G>T	ENSP00000388333.2:p.Arg238Ile
ENST00000462797.5:c.959G>T	ENSP00000473773.1:p.Arg320Ile
ENST00000465417.5:n.143G>T
ENST00000467774.1:n.241G>T
ENST00000489945.5:c.*377G>T	ENSP00000473745.1:n.*377G>T
ENST00000491865.5:n.194G>T
ENST00000492612.6:c.803G>T
ENST00000495175.6:c.*381G>T	ENSP00000474264.1:n.*381G>T
ENST00000537440.5:c.47G>T	ENSP00000437700.1:p.Arg16Ile
ENST00000541099.5:c.-140-2627G>T	ENSP00000437896.1:n.-140-2627G>T
NM_001312691.1:c.928+281G>T	NP_001299620.1:n.928+281G>T
NM_001312692.1:c.713G>T	NP_001299621.1:p.Arg238Ile
NM_017646.4:c.959G>T	NP_060116.2:p.Arg320Ile
NM_017646.5:c.959G>T	NP_060116.2:p.Arg320Ile
NR_132401.1:n.975G>T
NR_132402.1:n.833G>T
NR_132403.1:n.829G>T
NR_132404.1:n.829G>T
NR_132405.1:n.825G>T
NR_132406.1:n.716G>T
NR_132407.1:n.593G>T
NR_132408.1:n.589G>T
NR_132409.1:n.450G>T
NR_132410.1:n.476G>T
NR_132412.1:n.337G>T
NR_132413.1:n.195-2627G>T
NR_132414.1:n.195-5354G>T
NR_132415.1:n.1066G>T
XM_005270954.1:c.716G>T	XP_005271011.1:p.Arg239Ile
XM_006710706.1:c.536G>T	XP_006710769.1:p.Arg179Ile
XM_005270954.2:c.716G>T	XP_005271011.1:p.Arg239Ile
XR_946672.2:n.1059G>T
NM_017646.6:c.959G>T MANE Select	NP_060116.2:p.Arg320Ile