Canonical Allele Identifier: CA787976

Gene: TRIT1

Linked Data

• dbSNP Id: rs531371779
• ExAC: 1:40313230 A / G
• gnomAD v2: 1-40313230-A-G
• gnomAD v3: 1-39847558-A-G
• gnomAD v4: 1-39847558-A-G
• MyVariant Identifiers: chr1:g.40313230A>G (hg19) ; chr1:g.39847558A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847558A>G , CM000663.2:g.39847558A>G	GRCh38
NC_000001.10:g.40313230A>G , CM000663.1:g.40313230A>G	GRCh37
NC_000001.9:g.40085817A>G	NCBI36
NG_042822.1:g.40954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.918T>C MANE Select	ENSP00000321810.5:p.Leu306=
ENST00000648678.1:c.1810T>C	ENSP00000497805.1:n.1810T>C
ENST00000316891.9:c.918T>C	ENSP00000321810.5:p.Leu306=
ENST00000372818.5:c.918T>C	ENSP00000361905.1:p.Leu306=
ENST00000441669.6:c.672T>C	ENSP00000388333.2:p.Leu224=
ENST00000462797.5:c.918T>C	ENSP00000473773.1:p.Leu306=
ENST00000465417.5:n.113-261T>C
ENST00000467774.1:n.200T>C
ENST00000486825.6:c.823T>C
ENST00000489945.5:c.*336T>C	ENSP00000473745.1:n.*336T>C
ENST00000491865.5:n.164-261T>C
ENST00000492612.6:c.762T>C
ENST00000495175.6:c.*340T>C	ENSP00000474264.1:n.*340T>C
ENST00000537440.5:c.17-261T>C	ENSP00000437700.1:n.17-261T>C
ENST00000541099.5:c.-140-2918T>C	ENSP00000437896.1:n.-140-2918T>C
NM_001312691.1:c.918T>C	NP_001299620.1:p.Leu306=
NM_001312692.1:c.672T>C	NP_001299621.1:p.Leu224=
NM_017646.4:c.918T>C	NP_060116.2:p.Leu306=
NM_017646.5:c.918T>C	NP_060116.2:p.Leu306=
NR_132401.1:n.934T>C
NR_132402.1:n.792T>C
NR_132403.1:n.788T>C
NR_132404.1:n.788T>C
NR_132405.1:n.784T>C
NR_132406.1:n.686-261T>C
NR_132407.1:n.552T>C
NR_132408.1:n.548T>C
NR_132409.1:n.409T>C
NR_132410.1:n.446-261T>C
NR_132412.1:n.307-261T>C
NR_132413.1:n.195-2918T>C
NR_132414.1:n.195-5645T>C
NR_132415.1:n.1025T>C
XM_005270954.1:c.675T>C	XP_005271011.1:p.Leu225=
XM_006710706.1:c.495T>C	XP_006710769.1:p.Leu165=
XM_005270954.2:c.675T>C	XP_005271011.1:p.Leu225=
XR_946672.2:n.1018T>C
NM_017646.6:c.918T>C MANE Select	NP_060116.2:p.Leu306=