Canonical Allele Identifier: CA339832787

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312938T>G (hg19) ; chr1:g.39847266T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847266T>G , CM000663.2:g.39847266T>G	GRCh38
NC_000001.10:g.40312938T>G , CM000663.1:g.40312938T>G	GRCh37
NC_000001.9:g.40085525T>G	NCBI36
NG_042822.1:g.41246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.960A>C MANE Select	ENSP00000321810.5:p.Arg320Ser
ENST00000648678.1:c.1852A>C	ENSP00000497805.1:n.1852A>C
ENST00000316891.9:c.960A>C	ENSP00000321810.5:p.Arg320Ser
ENST00000372818.5:c.928+282A>C	ENSP00000361905.1:n.928+282A>C
ENST00000441669.6:c.714A>C	ENSP00000388333.2:p.Arg238Ser
ENST00000462797.5:c.960A>C	ENSP00000473773.1:p.Arg320Ser
ENST00000465417.5:n.144A>C
ENST00000467774.1:n.242A>C
ENST00000489945.5:c.*378A>C	ENSP00000473745.1:n.*378A>C
ENST00000491865.5:n.195A>C
ENST00000492612.6:c.804A>C
ENST00000495175.6:c.*382A>C	ENSP00000474264.1:n.*382A>C
ENST00000537440.5:c.48A>C	ENSP00000437700.1:p.Arg16Ser
ENST00000541099.5:c.-140-2626A>C	ENSP00000437896.1:n.-140-2626A>C
NM_001312691.1:c.928+282A>C	NP_001299620.1:n.928+282A>C
NM_001312692.1:c.714A>C	NP_001299621.1:p.Arg238Ser
NM_017646.4:c.960A>C	NP_060116.2:p.Arg320Ser
NM_017646.5:c.960A>C	NP_060116.2:p.Arg320Ser
NR_132401.1:n.976A>C
NR_132402.1:n.834A>C
NR_132403.1:n.830A>C
NR_132404.1:n.830A>C
NR_132405.1:n.826A>C
NR_132406.1:n.717A>C
NR_132407.1:n.594A>C
NR_132408.1:n.590A>C
NR_132409.1:n.451A>C
NR_132410.1:n.477A>C
NR_132412.1:n.338A>C
NR_132413.1:n.195-2626A>C
NR_132414.1:n.195-5353A>C
NR_132415.1:n.1067A>C
XM_005270954.1:c.717A>C	XP_005271011.1:p.Arg239Ser
XM_006710706.1:c.537A>C	XP_006710769.1:p.Arg179Ser
XM_005270954.2:c.717A>C	XP_005271011.1:p.Arg239Ser
XR_946672.2:n.1060A>C
NM_017646.6:c.960A>C MANE Select	NP_060116.2:p.Arg320Ser