Canonical Allele Identifier: CA787975

Gene: TRIT1

Linked Data

• dbSNP Id: rs751166813
• ExAC: 1:40313221 T / C
• gnomAD v2: 1-40313221-T-C
• gnomAD v4: 1-39847549-T-C
• MyVariant Identifiers: chr1:g.40313221T>C (hg19) ; chr1:g.39847549T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847549T>C , CM000663.2:g.39847549T>C	GRCh38
NC_000001.10:g.40313221T>C , CM000663.1:g.40313221T>C	GRCh37
NC_000001.9:g.40085808T>C	NCBI36
NG_042822.1:g.40963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.927A>G MANE Select	ENSP00000321810.5:p.Lys309=
ENST00000648678.1:c.1819A>G	ENSP00000497805.1:n.1819A>G
ENST00000316891.9:c.927A>G	ENSP00000321810.5:p.Lys309=
ENST00000372818.5:c.927A>G	ENSP00000361905.1:p.Lys309=
ENST00000441669.6:c.681A>G	ENSP00000388333.2:p.Lys227=
ENST00000462797.5:c.927A>G	ENSP00000473773.1:p.Lys309=
ENST00000465417.5:n.113-252A>G
ENST00000467774.1:n.209A>G
ENST00000486825.6:c.832A>G
ENST00000489945.5:c.*345A>G	ENSP00000473745.1:n.*345A>G
ENST00000491865.5:n.164-252A>G
ENST00000492612.6:c.771A>G
ENST00000495175.6:c.*349A>G	ENSP00000474264.1:n.*349A>G
ENST00000537440.5:c.17-252A>G	ENSP00000437700.1:n.17-252A>G
ENST00000541099.5:c.-140-2909A>G	ENSP00000437896.1:n.-140-2909A>G
NM_001312691.1:c.927A>G	NP_001299620.1:p.Lys309=
NM_001312692.1:c.681A>G	NP_001299621.1:p.Lys227=
NM_017646.4:c.927A>G	NP_060116.2:p.Lys309=
NM_017646.5:c.927A>G	NP_060116.2:p.Lys309=
NR_132401.1:n.943A>G
NR_132402.1:n.801A>G
NR_132403.1:n.797A>G
NR_132404.1:n.797A>G
NR_132405.1:n.793A>G
NR_132406.1:n.686-252A>G
NR_132407.1:n.561A>G
NR_132408.1:n.557A>G
NR_132409.1:n.418A>G
NR_132410.1:n.446-252A>G
NR_132412.1:n.307-252A>G
NR_132413.1:n.195-2909A>G
NR_132414.1:n.195-5636A>G
NR_132415.1:n.1034A>G
XM_005270954.1:c.684A>G	XP_005271011.1:p.Lys228=
XM_006710706.1:c.504A>G	XP_006710769.1:p.Lys168=
XM_005270954.2:c.684A>G	XP_005271011.1:p.Lys228=
XR_946672.2:n.1027A>G
NM_017646.6:c.927A>G MANE Select	NP_060116.2:p.Lys309=