Canonical Allele Identifier: CA417301885

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312959A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847287A>G , CM000663.2:g.39847287A>G	GRCh38
NC_000001.10:g.40312959A>G , CM000663.1:g.40312959A>G	GRCh37
NC_000001.9:g.40085546A>G	NCBI36
NG_042822.1:g.41225T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.939T>C MANE Select	ENSP00000321810.5:p.Ala313=
ENST00000648678.1:c.1831T>C	ENSP00000497805.1:n.1831T>C
ENST00000316891.9:c.939T>C	ENSP00000321810.5:p.Ala313=
ENST00000372818.5:c.928+261T>C	ENSP00000361905.1:n.928+261T>C
ENST00000441669.6:c.693T>C	ENSP00000388333.2:p.Ala231=
ENST00000462797.5:c.939T>C	ENSP00000473773.1:p.Ala313=
ENST00000465417.5:n.123T>C
ENST00000467774.1:n.221T>C
ENST00000486825.6:c.844T>C
ENST00000489945.5:c.*357T>C	ENSP00000473745.1:n.*357T>C
ENST00000491865.5:n.174T>C
ENST00000492612.6:c.783T>C
ENST00000495175.6:c.*361T>C	ENSP00000474264.1:n.*361T>C
ENST00000537440.5:c.27T>C	ENSP00000437700.1:p.Ala9=
ENST00000541099.5:c.-140-2647T>C	ENSP00000437896.1:n.-140-2647T>C
NM_001312691.1:c.928+261T>C	NP_001299620.1:n.928+261T>C
NM_001312692.1:c.693T>C	NP_001299621.1:p.Ala231=
NM_017646.4:c.939T>C	NP_060116.2:p.Ala313=
NM_017646.5:c.939T>C	NP_060116.2:p.Ala313=
NR_132401.1:n.955T>C
NR_132402.1:n.813T>C
NR_132403.1:n.809T>C
NR_132404.1:n.809T>C
NR_132405.1:n.805T>C
NR_132406.1:n.696T>C
NR_132407.1:n.573T>C
NR_132408.1:n.569T>C
NR_132409.1:n.430T>C
NR_132410.1:n.456T>C
NR_132412.1:n.317T>C
NR_132413.1:n.195-2647T>C
NR_132414.1:n.195-5374T>C
NR_132415.1:n.1046T>C
XM_005270954.1:c.696T>C	XP_005271011.1:p.Ala232=
XM_006710706.1:c.516T>C	XP_006710769.1:p.Ala172=
XM_005270954.2:c.696T>C	XP_005271011.1:p.Ala232=
XR_946672.2:n.1039T>C
NM_017646.6:c.939T>C MANE Select	NP_060116.2:p.Ala313=