Canonical Allele Identifier: CA417301745

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312902A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847230A>G , CM000663.2:g.39847230A>G	GRCh38
NC_000001.10:g.40312902A>G , CM000663.1:g.40312902A>G	GRCh37
NC_000001.9:g.40085489A>G	NCBI36
NG_042822.1:g.41282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.996T>C MANE Select	ENSP00000321810.5:p.Arg332=
ENST00000648678.1:c.1888T>C	ENSP00000497805.1:n.1888T>C
ENST00000316891.9:c.996T>C	ENSP00000321810.5:p.Arg332=
ENST00000372818.5:c.928+318T>C	ENSP00000361905.1:n.928+318T>C
ENST00000441669.6:c.750T>C	ENSP00000388333.2:p.Arg250=
ENST00000462797.5:c.996T>C	ENSP00000473773.1:p.Arg332=
ENST00000465417.5:n.180T>C
ENST00000467774.1:n.278T>C
ENST00000489945.5:c.*414T>C	ENSP00000473745.1:n.*414T>C
ENST00000491865.5:n.231T>C
ENST00000492612.6:c.840T>C
ENST00000495175.6:c.*418T>C	ENSP00000474264.1:n.*418T>C
ENST00000537440.5:c.84T>C	ENSP00000437700.1:p.Arg28=
ENST00000541099.5:c.-140-2590T>C	ENSP00000437896.1:n.-140-2590T>C
NM_001312691.1:c.928+318T>C	NP_001299620.1:n.928+318T>C
NM_001312692.1:c.750T>C	NP_001299621.1:p.Arg250=
NM_017646.4:c.996T>C	NP_060116.2:p.Arg332=
NM_017646.5:c.996T>C	NP_060116.2:p.Arg332=
NR_132401.1:n.1012T>C
NR_132402.1:n.870T>C
NR_132403.1:n.866T>C
NR_132404.1:n.866T>C
NR_132405.1:n.862T>C
NR_132406.1:n.753T>C
NR_132407.1:n.630T>C
NR_132408.1:n.626T>C
NR_132409.1:n.487T>C
NR_132410.1:n.513T>C
NR_132412.1:n.374T>C
NR_132413.1:n.195-2590T>C
NR_132414.1:n.195-5317T>C
NR_132415.1:n.1103T>C
XM_005270954.1:c.753T>C	XP_005271011.1:p.Arg251=
XM_006710706.1:c.573T>C	XP_006710769.1:p.Arg191=
XM_005270954.2:c.753T>C	XP_005271011.1:p.Arg251=
XR_946672.2:n.1096T>C
NM_017646.6:c.996T>C MANE Select	NP_060116.2:p.Arg332=