Canonical Allele Identifier: CA339833195

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313228A>C (hg19) ; chr1:g.39847556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847556A>C , CM000663.2:g.39847556A>C	GRCh38
NC_000001.10:g.40313228A>C , CM000663.1:g.40313228A>C	GRCh37
NC_000001.9:g.40085815A>C	NCBI36
NG_042822.1:g.40956T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.920T>G MANE Select	ENSP00000321810.5:p.Leu307Arg
ENST00000648678.1:c.1812T>G	ENSP00000497805.1:n.1812T>G
ENST00000316891.9:c.920T>G	ENSP00000321810.5:p.Leu307Arg
ENST00000372818.5:c.920T>G	ENSP00000361905.1:p.Leu307Arg
ENST00000441669.6:c.674T>G	ENSP00000388333.2:p.Leu225Arg
ENST00000462797.5:c.920T>G	ENSP00000473773.1:p.Leu307Arg
ENST00000465417.5:n.113-259T>G
ENST00000467774.1:n.202T>G
ENST00000486825.6:c.825T>G
ENST00000489945.5:c.*338T>G	ENSP00000473745.1:n.*338T>G
ENST00000491865.5:n.164-259T>G
ENST00000492612.6:c.764T>G
ENST00000495175.6:c.*342T>G	ENSP00000474264.1:n.*342T>G
ENST00000537440.5:c.17-259T>G	ENSP00000437700.1:n.17-259T>G
ENST00000541099.5:c.-140-2916T>G	ENSP00000437896.1:n.-140-2916T>G
NM_001312691.1:c.920T>G	NP_001299620.1:p.Leu307Arg
NM_001312692.1:c.674T>G	NP_001299621.1:p.Leu225Arg
NM_017646.4:c.920T>G	NP_060116.2:p.Leu307Arg
NM_017646.5:c.920T>G	NP_060116.2:p.Leu307Arg
NR_132401.1:n.936T>G
NR_132402.1:n.794T>G
NR_132403.1:n.790T>G
NR_132404.1:n.790T>G
NR_132405.1:n.786T>G
NR_132406.1:n.686-259T>G
NR_132407.1:n.554T>G
NR_132408.1:n.550T>G
NR_132409.1:n.411T>G
NR_132410.1:n.446-259T>G
NR_132412.1:n.307-259T>G
NR_132413.1:n.195-2916T>G
NR_132414.1:n.195-5643T>G
NR_132415.1:n.1027T>G
XM_005270954.1:c.677T>G	XP_005271011.1:p.Leu226Arg
XM_006710706.1:c.497T>G	XP_006710769.1:p.Leu166Arg
XM_005270954.2:c.677T>G	XP_005271011.1:p.Leu226Arg
XR_946672.2:n.1020T>G
NM_017646.6:c.920T>G MANE Select	NP_060116.2:p.Leu307Arg