Canonical Allele Identifier: CA735705125

Gene: TRIT1

Linked Data

• dbSNP Id: rs1173748579
• gnomAD v3: 1-39847494-A-G
• gnomAD v4: 1-39847494-A-G
• MyVariant Identifiers: chr1:g.40313166A>G (hg19) ; chr1:g.39847494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847494A>G , CM000663.2:g.39847494A>G	GRCh38
NC_000001.10:g.40313166A>G , CM000663.1:g.40313166A>G	GRCh37
NC_000001.9:g.40085753A>G	NCBI36
NG_042822.1:g.41018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.928+54T>C MANE Select	ENSP00000321810.5:n.928+54T>C
ENST00000648678.1:c.1820+54T>C	ENSP00000497805.1:n.1820+54T>C
ENST00000316891.9:c.928+54T>C	ENSP00000321810.5:n.928+54T>C
ENST00000372818.5:c.928+54T>C	ENSP00000361905.1:n.928+54T>C
ENST00000441669.6:c.682+54T>C	ENSP00000388333.2:n.682+54T>C
ENST00000462797.5:c.928+54T>C	ENSP00000473773.1:n.928+54T>C
ENST00000465417.5:n.113-197T>C
ENST00000467774.1:n.210+54T>C
ENST00000486825.6:c.833+54T>C
ENST00000489945.5:c.*346+54T>C	ENSP00000473745.1:n.*346+54T>C
ENST00000491865.5:n.164-197T>C
ENST00000492612.6:c.772+54T>C
ENST00000495175.6:c.*350+54T>C	ENSP00000474264.1:n.*350+54T>C
ENST00000537440.5:c.17-197T>C	ENSP00000437700.1:n.17-197T>C
ENST00000541099.5:c.-140-2854T>C	ENSP00000437896.1:n.-140-2854T>C
NM_001312691.1:c.928+54T>C	NP_001299620.1:n.928+54T>C
NM_001312692.1:c.682+54T>C	NP_001299621.1:n.682+54T>C
NM_017646.4:c.928+54T>C	NP_060116.2:n.928+54T>C
NM_017646.5:c.928+54T>C	NP_060116.2:n.928+54T>C
NR_132401.1:n.944+54T>C
NR_132402.1:n.802+54T>C
NR_132403.1:n.798+54T>C
NR_132404.1:n.798+54T>C
NR_132405.1:n.794+54T>C
NR_132406.1:n.686-197T>C
NR_132407.1:n.562+54T>C
NR_132408.1:n.558+54T>C
NR_132409.1:n.419+54T>C
NR_132410.1:n.446-197T>C
NR_132412.1:n.307-197T>C
NR_132413.1:n.195-2854T>C
NR_132414.1:n.195-5581T>C
NR_132415.1:n.1035+54T>C
XM_005270954.1:c.685+54T>C	XP_005271011.1:n.685+54T>C
XM_006710706.1:c.505+54T>C	XP_006710769.1:n.505+54T>C
XM_005270954.2:c.685+54T>C	XP_005271011.1:n.685+54T>C
XR_946672.2:n.1028+54T>C
NM_017646.6:c.928+54T>C MANE Select	NP_060116.2:n.928+54T>C