Canonical Allele Identifier: CA339832722

Gene: TRIT1

Linked Data

• dbSNP Id: rs1378806526
• gnomAD v2: 1-40312928-T-C
• gnomAD v4: 1-39847256-T-C
• MyVariant Identifiers: chr1:g.40312928T>C (hg19) ; chr1:g.39847256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847256T>C , CM000663.2:g.39847256T>C	GRCh38
NC_000001.10:g.40312928T>C , CM000663.1:g.40312928T>C	GRCh37
NC_000001.9:g.40085515T>C	NCBI36
NG_042822.1:g.41256A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.970A>G MANE Select	ENSP00000321810.5:p.Lys324Glu
ENST00000648678.1:c.1862A>G	ENSP00000497805.1:n.1862A>G
ENST00000316891.9:c.970A>G	ENSP00000321810.5:p.Lys324Glu
ENST00000372818.5:c.928+292A>G	ENSP00000361905.1:n.928+292A>G
ENST00000441669.6:c.724A>G	ENSP00000388333.2:p.Lys242Glu
ENST00000462797.5:c.970A>G	ENSP00000473773.1:p.Lys324Glu
ENST00000465417.5:n.154A>G
ENST00000467774.1:n.252A>G
ENST00000489945.5:c.*388A>G	ENSP00000473745.1:n.*388A>G
ENST00000491865.5:n.205A>G
ENST00000492612.6:c.814A>G
ENST00000495175.6:c.*392A>G	ENSP00000474264.1:n.*392A>G
ENST00000537440.5:c.58A>G	ENSP00000437700.1:p.Lys20Glu
ENST00000541099.5:c.-140-2616A>G	ENSP00000437896.1:n.-140-2616A>G
NM_001312691.1:c.928+292A>G	NP_001299620.1:n.928+292A>G
NM_001312692.1:c.724A>G	NP_001299621.1:p.Lys242Glu
NM_017646.4:c.970A>G	NP_060116.2:p.Lys324Glu
NM_017646.5:c.970A>G	NP_060116.2:p.Lys324Glu
NR_132401.1:n.986A>G
NR_132402.1:n.844A>G
NR_132403.1:n.840A>G
NR_132404.1:n.840A>G
NR_132405.1:n.836A>G
NR_132406.1:n.727A>G
NR_132407.1:n.604A>G
NR_132408.1:n.600A>G
NR_132409.1:n.461A>G
NR_132410.1:n.487A>G
NR_132412.1:n.348A>G
NR_132413.1:n.195-2616A>G
NR_132414.1:n.195-5343A>G
NR_132415.1:n.1077A>G
XM_005270954.1:c.727A>G	XP_005271011.1:p.Lys243Glu
XM_006710706.1:c.547A>G	XP_006710769.1:p.Lys183Glu
XM_005270954.2:c.727A>G	XP_005271011.1:p.Lys243Glu
XR_946672.2:n.1070A>G
NM_017646.6:c.970A>G MANE Select	NP_060116.2:p.Lys324Glu