Canonical Allele Identifier: CA20969662

Gene: TRIT1

Linked Data

• dbSNP Id: rs970970379
• gnomAD v2: 1-40312723-T-A
• gnomAD v3: 1-39847051-T-A
• gnomAD v4: 1-39847051-T-A
• MyVariant Identifiers: chr1:g.40312723T>A (hg19) ; chr1:g.39847051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847051T>A , CM000663.2:g.39847051T>A	GRCh38
NC_000001.10:g.40312723T>A , CM000663.1:g.40312723T>A	GRCh37
NC_000001.9:g.40085310T>A	NCBI36
NG_042822.1:g.41461A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.1006+169A>T MANE Select	ENSP00000321810.5:n.1006+169A>T
ENST00000648678.1:c.1898+169A>T	ENSP00000497805.1:n.1898+169A>T
ENST00000316891.9:c.1006+169A>T	ENSP00000321810.5:n.1006+169A>T
ENST00000372818.5:c.928+497A>T	ENSP00000361905.1:n.928+497A>T
ENST00000441669.6:c.760+169A>T	ENSP00000388333.2:n.760+169A>T
ENST00000462797.5:c.1006+169A>T	ENSP00000473773.1:n.1006+169A>T
ENST00000465417.5:n.190+169A>T
ENST00000467774.1:n.457A>T
ENST00000491865.5:n.241+169A>T
ENST00000492612.6:c.850+169A>T
ENST00000495175.6:c.*428+169A>T	ENSP00000474264.1:n.*428+169A>T
ENST00000537440.5:c.94+169A>T	ENSP00000437700.1:n.94+169A>T
ENST00000541099.5:c.-140-2411A>T	ENSP00000437896.1:n.-140-2411A>T
NM_001312691.1:c.928+497A>T	NP_001299620.1:n.928+497A>T
NM_001312692.1:c.760+169A>T	NP_001299621.1:n.760+169A>T
NM_017646.4:c.1006+169A>T	NP_060116.2:n.1006+169A>T
NM_017646.5:c.1006+169A>T	NP_060116.2:n.1006+169A>T
NR_132401.1:n.1022+169A>T
NR_132402.1:n.880+169A>T
NR_132403.1:n.876+169A>T
NR_132404.1:n.876+169A>T
NR_132405.1:n.872+169A>T
NR_132406.1:n.763+169A>T
NR_132407.1:n.640+169A>T
NR_132408.1:n.636+169A>T
NR_132409.1:n.497+169A>T
NR_132410.1:n.523+169A>T
NR_132412.1:n.384+169A>T
NR_132413.1:n.195-2411A>T
NR_132414.1:n.195-5138A>T
NR_132415.1:n.1113+169A>T
XM_005270954.1:c.763+169A>T	XP_005271011.1:n.763+169A>T
XM_006710706.1:c.583+169A>T	XP_006710769.1:n.583+169A>T
XM_005270954.2:c.763+169A>T	XP_005271011.1:n.763+169A>T
XR_946672.2:n.1106+169A>T
NM_017646.6:c.1006+169A>T MANE Select	NP_060116.2:n.1006+169A>T