Canonical Allele Identifier: CA787977

Gene: TRIT1

Linked Data

• dbSNP Id: rs767197950
• ExAC: 1:40313238 T / C
• gnomAD v2: 1-40313238-T-C
• gnomAD v3: 1-39847566-T-C
• gnomAD v4: 1-39847566-T-C
• MyVariant Identifiers: chr1:g.40313238T>C (hg19) ; chr1:g.39847566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847566T>C , CM000663.2:g.39847566T>C	GRCh38
NC_000001.10:g.40313238T>C , CM000663.1:g.40313238T>C	GRCh37
NC_000001.9:g.40085825T>C	NCBI36
NG_042822.1:g.40946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.910A>G MANE Select	ENSP00000321810.5:p.Asn304Asp
ENST00000648678.1:c.1802A>G	ENSP00000497805.1:n.1802A>G
ENST00000316891.9:c.910A>G	ENSP00000321810.5:p.Asn304Asp
ENST00000372818.5:c.910A>G	ENSP00000361905.1:p.Asn304Asp
ENST00000441669.6:c.664A>G	ENSP00000388333.2:p.Asn222Asp
ENST00000462797.5:c.910A>G	ENSP00000473773.1:p.Asn304Asp
ENST00000465417.5:n.113-269A>G
ENST00000467774.1:n.192A>G
ENST00000486825.6:c.815A>G
ENST00000489945.5:c.*328A>G	ENSP00000473745.1:n.*328A>G
ENST00000491865.5:n.164-269A>G
ENST00000492612.6:c.754A>G
ENST00000495175.6:c.*332A>G	ENSP00000474264.1:n.*332A>G
ENST00000537440.5:c.17-269A>G	ENSP00000437700.1:n.17-269A>G
ENST00000541099.5:c.-140-2926A>G	ENSP00000437896.1:n.-140-2926A>G
NM_001312691.1:c.910A>G	NP_001299620.1:p.Asn304Asp
NM_001312692.1:c.664A>G	NP_001299621.1:p.Asn222Asp
NM_017646.4:c.910A>G	NP_060116.2:p.Asn304Asp
NM_017646.5:c.910A>G	NP_060116.2:p.Asn304Asp
NR_132401.1:n.926A>G
NR_132402.1:n.784A>G
NR_132403.1:n.780A>G
NR_132404.1:n.780A>G
NR_132405.1:n.776A>G
NR_132406.1:n.686-269A>G
NR_132407.1:n.544A>G
NR_132408.1:n.540A>G
NR_132409.1:n.401A>G
NR_132410.1:n.446-269A>G
NR_132412.1:n.307-269A>G
NR_132413.1:n.195-2926A>G
NR_132414.1:n.195-5653A>G
NR_132415.1:n.1017A>G
XM_005270954.1:c.667A>G	XP_005271011.1:p.Asn223Asp
XM_006710706.1:c.487A>G	XP_006710769.1:p.Asn163Asp
XM_005270954.2:c.667A>G	XP_005271011.1:p.Asn223Asp
XR_946672.2:n.1010A>G
NM_017646.6:c.910A>G MANE Select	NP_060116.2:p.Asn304Asp