Canonical Allele Identifier: CA20969652

Gene: TRIT1

Linked Data

• dbSNP Id: rs1012397176
• gnomAD v2: 1-40312710-T-TC
• gnomAD v3: 1-39847038-T-TC
• gnomAD v4: 1-39847038-T-TC
• MyVariant Identifiers: chr1:g.40312710_40312711insC (hg19) ; chr1:g.39847038_39847039insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847038_39847039insC , CM000663.2:g.39847038_39847039insC	GRCh38
NC_000001.10:g.40312710_40312711insC , CM000663.1:g.40312710_40312711insC	GRCh37
NC_000001.9:g.40085297_40085298insC	NCBI36
NG_042822.1:g.41473_41474insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.1006+181_1006+182insG MANE Select	ENSP00000321810.5:n.1006+181_1006+182insG
ENST00000648678.1:c.1898+181_1898+182insG	ENSP00000497805.1:n.1898+181_1898+182insG
ENST00000316891.9:c.1006+181_1006+182insG	ENSP00000321810.5:n.1006+181_1006+182insG
ENST00000372818.5:c.928+509_928+510insG	ENSP00000361905.1:n.928+509_928+510insG
ENST00000441669.6:c.760+181_760+182insG	ENSP00000388333.2:n.760+181_760+182insG
ENST00000462797.5:c.1006+181_1006+182insG	ENSP00000473773.1:n.1006+181_1006+182insG
ENST00000465417.5:n.190+181_190+182insG
ENST00000491865.5:n.241+181_241+182insG
ENST00000492612.6:c.850+181_850+182insG
ENST00000495175.6:c.*428+181_*428+182insG	ENSP00000474264.1:n.*428+181_*428+182insG
ENST00000537440.5:c.94+181_94+182insG	ENSP00000437700.1:n.94+181_94+182insG
ENST00000541099.5:c.-140-2399_-140-2398insG	ENSP00000437896.1:n.-140-2399_-140-2398insG
NM_001312691.1:c.928+509_928+510insG	NP_001299620.1:n.928+509_928+510insG
NM_001312692.1:c.760+181_760+182insG	NP_001299621.1:n.760+181_760+182insG
NM_017646.4:c.1006+181_1006+182insG	NP_060116.2:n.1006+181_1006+182insG
NM_017646.5:c.1006+181_1006+182insG	NP_060116.2:n.1006+181_1006+182insG
NR_132401.1:n.1022+181_1022+182insG
NR_132402.1:n.880+181_880+182insG
NR_132403.1:n.876+181_876+182insG
NR_132404.1:n.876+181_876+182insG
NR_132405.1:n.872+181_872+182insG
NR_132406.1:n.763+181_763+182insG
NR_132407.1:n.640+181_640+182insG
NR_132408.1:n.636+181_636+182insG
NR_132409.1:n.497+181_497+182insG
NR_132410.1:n.523+181_523+182insG
NR_132412.1:n.384+181_384+182insG
NR_132413.1:n.195-2399_195-2398insG
NR_132414.1:n.195-5126_195-5125insG
NR_132415.1:n.1113+181_1113+182insG
XM_005270954.1:c.763+181_763+182insG	XP_005271011.1:n.763+181_763+182insG
XM_006710706.1:c.583+181_583+182insG	XP_006710769.1:n.583+181_583+182insG
XM_005270954.2:c.763+181_763+182insG	XP_005271011.1:n.763+181_763+182insG
XR_946672.2:n.1106+181_1106+182insG
NM_017646.6:c.1006+181_1006+182insG MANE Select	NP_060116.2:n.1006+181_1006+182insG