Canonical Allele Identifier: CA787972

Gene: TRIT1

Linked Data

• dbSNP Id: rs773036284
• ExAC: 1:40313191 A / C
• gnomAD v2: 1-40313191-A-C
• gnomAD v4: 1-39847519-A-C
• MyVariant Identifiers: chr1:g.40313191A>C (hg19) ; chr1:g.39847519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847519A>C , CM000663.2:g.39847519A>C	GRCh38
NC_000001.10:g.40313191A>C , CM000663.1:g.40313191A>C	GRCh37
NC_000001.9:g.40085778A>C	NCBI36
NG_042822.1:g.40993T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.928+29T>G MANE Select	ENSP00000321810.5:n.928+29T>G
ENST00000648678.1:c.1820+29T>G	ENSP00000497805.1:n.1820+29T>G
ENST00000316891.9:c.928+29T>G	ENSP00000321810.5:n.928+29T>G
ENST00000372818.5:c.928+29T>G	ENSP00000361905.1:n.928+29T>G
ENST00000441669.6:c.682+29T>G	ENSP00000388333.2:n.682+29T>G
ENST00000462797.5:c.928+29T>G	ENSP00000473773.1:n.928+29T>G
ENST00000465417.5:n.113-222T>G
ENST00000467774.1:n.210+29T>G
ENST00000486825.6:c.833+29T>G
ENST00000489945.5:c.*346+29T>G	ENSP00000473745.1:n.*346+29T>G
ENST00000491865.5:n.164-222T>G
ENST00000492612.6:c.772+29T>G
ENST00000495175.6:c.*350+29T>G	ENSP00000474264.1:n.*350+29T>G
ENST00000537440.5:c.17-222T>G	ENSP00000437700.1:n.17-222T>G
ENST00000541099.5:c.-140-2879T>G	ENSP00000437896.1:n.-140-2879T>G
NM_001312691.1:c.928+29T>G	NP_001299620.1:n.928+29T>G
NM_001312692.1:c.682+29T>G	NP_001299621.1:n.682+29T>G
NM_017646.4:c.928+29T>G	NP_060116.2:n.928+29T>G
NM_017646.5:c.928+29T>G	NP_060116.2:n.928+29T>G
NR_132401.1:n.944+29T>G
NR_132402.1:n.802+29T>G
NR_132403.1:n.798+29T>G
NR_132404.1:n.798+29T>G
NR_132405.1:n.794+29T>G
NR_132406.1:n.686-222T>G
NR_132407.1:n.562+29T>G
NR_132408.1:n.558+29T>G
NR_132409.1:n.419+29T>G
NR_132410.1:n.446-222T>G
NR_132412.1:n.307-222T>G
NR_132413.1:n.195-2879T>G
NR_132414.1:n.195-5606T>G
NR_132415.1:n.1035+29T>G
XM_005270954.1:c.685+29T>G	XP_005271011.1:n.685+29T>G
XM_006710706.1:c.505+29T>G	XP_006710769.1:n.505+29T>G
XM_005270954.2:c.685+29T>G	XP_005271011.1:n.685+29T>G
XR_946672.2:n.1028+29T>G
NM_017646.6:c.928+29T>G MANE Select	NP_060116.2:n.928+29T>G