Canonical Allele Identifier: CA339833262

Gene: TRIT1

Linked Data

• dbSNP Id: rs1166592246
• gnomAD v2: 1-40313239-A-T
• gnomAD v4: 1-39847567-A-T
• MyVariant Identifiers: chr1:g.40313239A>T (hg19) ; chr1:g.39847567A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847567A>T , CM000663.2:g.39847567A>T	GRCh38
NC_000001.10:g.40313239A>T , CM000663.1:g.40313239A>T	GRCh37
NC_000001.9:g.40085826A>T	NCBI36
NG_042822.1:g.40945T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.909T>A MANE Select	ENSP00000321810.5:p.Ser303Arg
ENST00000648678.1:c.1801T>A	ENSP00000497805.1:n.1801T>A
ENST00000316891.9:c.909T>A	ENSP00000321810.5:p.Ser303Arg
ENST00000372818.5:c.909T>A	ENSP00000361905.1:p.Ser303Arg
ENST00000441669.6:c.663T>A	ENSP00000388333.2:p.Ser221Arg
ENST00000462797.5:c.909T>A	ENSP00000473773.1:p.Ser303Arg
ENST00000465417.5:n.113-270T>A
ENST00000467774.1:n.191T>A
ENST00000486825.6:c.814T>A
ENST00000489945.5:c.*327T>A	ENSP00000473745.1:n.*327T>A
ENST00000491865.5:n.164-270T>A
ENST00000492612.6:c.753T>A
ENST00000495175.6:c.*331T>A	ENSP00000474264.1:n.*331T>A
ENST00000537440.5:c.17-270T>A	ENSP00000437700.1:n.17-270T>A
ENST00000541099.5:c.-140-2927T>A	ENSP00000437896.1:n.-140-2927T>A
NM_001312691.1:c.909T>A	NP_001299620.1:p.Ser303Arg
NM_001312692.1:c.663T>A	NP_001299621.1:p.Ser221Arg
NM_017646.4:c.909T>A	NP_060116.2:p.Ser303Arg
NM_017646.5:c.909T>A	NP_060116.2:p.Ser303Arg
NR_132401.1:n.925T>A
NR_132402.1:n.783T>A
NR_132403.1:n.779T>A
NR_132404.1:n.779T>A
NR_132405.1:n.775T>A
NR_132406.1:n.686-270T>A
NR_132407.1:n.543T>A
NR_132408.1:n.539T>A
NR_132409.1:n.400T>A
NR_132410.1:n.446-270T>A
NR_132412.1:n.307-270T>A
NR_132413.1:n.195-2927T>A
NR_132414.1:n.195-5654T>A
NR_132415.1:n.1016T>A
XM_005270954.1:c.666T>A	XP_005271011.1:p.Ser222Arg
XM_006710706.1:c.486T>A	XP_006710769.1:p.Ser162Arg
XM_005270954.2:c.666T>A	XP_005271011.1:p.Ser222Arg
XR_946672.2:n.1009T>A
NM_017646.6:c.909T>A MANE Select	NP_060116.2:p.Ser303Arg