Canonical Allele Identifier: CA20969887

Gene: TRIT1

Linked Data

• dbSNP Id: rs79540048
• gnomAD v2: 1-40313107-G-A
• gnomAD v3: 1-39847435-G-A
• gnomAD v4: 1-39847435-G-A
• MyVariant Identifiers: chr1:g.40313107G>A (hg19) ; chr1:g.39847435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847435G>A , CM000663.2:g.39847435G>A	GRCh38
NC_000001.10:g.40313107G>A , CM000663.1:g.40313107G>A	GRCh37
NC_000001.9:g.40085694G>A	NCBI36
NG_042822.1:g.41077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.928+113C>T MANE Select	ENSP00000321810.5:n.928+113C>T
ENST00000648678.1:c.1820+113C>T	ENSP00000497805.1:n.1820+113C>T
ENST00000316891.9:c.928+113C>T	ENSP00000321810.5:n.928+113C>T
ENST00000372818.5:c.928+113C>T	ENSP00000361905.1:n.928+113C>T
ENST00000441669.6:c.682+113C>T	ENSP00000388333.2:n.682+113C>T
ENST00000462797.5:c.928+113C>T	ENSP00000473773.1:n.928+113C>T
ENST00000465417.5:n.113-138C>T
ENST00000467774.1:n.210+113C>T
ENST00000486825.6:c.833+113C>T
ENST00000489945.5:c.*346+113C>T	ENSP00000473745.1:n.*346+113C>T
ENST00000491865.5:n.164-138C>T
ENST00000492612.6:c.772+113C>T
ENST00000495175.6:c.*350+113C>T	ENSP00000474264.1:n.*350+113C>T
ENST00000537440.5:c.17-138C>T	ENSP00000437700.1:n.17-138C>T
ENST00000541099.5:c.-140-2795C>T	ENSP00000437896.1:n.-140-2795C>T
NM_001312691.1:c.928+113C>T	NP_001299620.1:n.928+113C>T
NM_001312692.1:c.682+113C>T	NP_001299621.1:n.682+113C>T
NM_017646.4:c.928+113C>T	NP_060116.2:n.928+113C>T
NM_017646.5:c.928+113C>T	NP_060116.2:n.928+113C>T
NR_132401.1:n.944+113C>T
NR_132402.1:n.802+113C>T
NR_132403.1:n.798+113C>T
NR_132404.1:n.798+113C>T
NR_132405.1:n.794+113C>T
NR_132406.1:n.686-138C>T
NR_132407.1:n.562+113C>T
NR_132408.1:n.558+113C>T
NR_132409.1:n.419+113C>T
NR_132410.1:n.446-138C>T
NR_132412.1:n.307-138C>T
NR_132413.1:n.195-2795C>T
NR_132414.1:n.195-5522C>T
NR_132415.1:n.1035+113C>T
XM_005270954.1:c.685+113C>T	XP_005271011.1:n.685+113C>T
XM_006710706.1:c.505+113C>T	XP_006710769.1:n.505+113C>T
XM_005270954.2:c.685+113C>T	XP_005271011.1:n.685+113C>T
XR_946672.2:n.1028+113C>T
NM_017646.6:c.928+113C>T MANE Select	NP_060116.2:n.928+113C>T