Canonical Allele Identifier: CA20969926

Gene: TRIT1

Linked Data

• dbSNP Id: rs778548439
• gnomAD v4: 1-39847564-G-T
• MyVariant Identifiers: chr1:g.40313236G>T (hg19) ; chr1:g.39847564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847564G>T , CM000663.2:g.39847564G>T	GRCh38
NC_000001.10:g.40313236G>T , CM000663.1:g.40313236G>T	GRCh37
NC_000001.9:g.40085823G>T	NCBI36
NG_042822.1:g.40948C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.912C>A MANE Select	ENSP00000321810.5:p.Asn304Lys
ENST00000648678.1:c.1804C>A	ENSP00000497805.1:n.1804C>A
ENST00000316891.9:c.912C>A	ENSP00000321810.5:p.Asn304Lys
ENST00000372818.5:c.912C>A	ENSP00000361905.1:p.Asn304Lys
ENST00000441669.6:c.666C>A	ENSP00000388333.2:p.Asn222Lys
ENST00000462797.5:c.912C>A	ENSP00000473773.1:p.Asn304Lys
ENST00000465417.5:n.113-267C>A
ENST00000467774.1:n.194C>A
ENST00000486825.6:c.817C>A
ENST00000489945.5:c.*330C>A	ENSP00000473745.1:n.*330C>A
ENST00000491865.5:n.164-267C>A
ENST00000492612.6:c.756C>A
ENST00000495175.6:c.*334C>A	ENSP00000474264.1:n.*334C>A
ENST00000537440.5:c.17-267C>A	ENSP00000437700.1:n.17-267C>A
ENST00000541099.5:c.-140-2924C>A	ENSP00000437896.1:n.-140-2924C>A
NM_001312691.1:c.912C>A	NP_001299620.1:p.Asn304Lys
NM_001312692.1:c.666C>A	NP_001299621.1:p.Asn222Lys
NM_017646.4:c.912C>A	NP_060116.2:p.Asn304Lys
NM_017646.5:c.912C>A	NP_060116.2:p.Asn304Lys
NR_132401.1:n.928C>A
NR_132402.1:n.786C>A
NR_132403.1:n.782C>A
NR_132404.1:n.782C>A
NR_132405.1:n.778C>A
NR_132406.1:n.686-267C>A
NR_132407.1:n.546C>A
NR_132408.1:n.542C>A
NR_132409.1:n.403C>A
NR_132410.1:n.446-267C>A
NR_132412.1:n.307-267C>A
NR_132413.1:n.195-2924C>A
NR_132414.1:n.195-5651C>A
NR_132415.1:n.1019C>A
XM_005270954.1:c.669C>A	XP_005271011.1:p.Asn223Lys
XM_006710706.1:c.489C>A	XP_006710769.1:p.Asn163Lys
XM_005270954.2:c.669C>A	XP_005271011.1:p.Asn223Lys
XR_946672.2:n.1012C>A
NM_017646.6:c.912C>A MANE Select	NP_060116.2:p.Asn304Lys