Canonical Allele Identifier: CA339833201

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313229G>C (hg19) ; chr1:g.39847557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847557G>C , CM000663.2:g.39847557G>C	GRCh38
NC_000001.10:g.40313229G>C , CM000663.1:g.40313229G>C	GRCh37
NC_000001.9:g.40085816G>C	NCBI36
NG_042822.1:g.40955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.919C>G MANE Select	ENSP00000321810.5:p.Leu307Val
ENST00000648678.1:c.1811C>G	ENSP00000497805.1:n.1811C>G
ENST00000316891.9:c.919C>G	ENSP00000321810.5:p.Leu307Val
ENST00000372818.5:c.919C>G	ENSP00000361905.1:p.Leu307Val
ENST00000441669.6:c.673C>G	ENSP00000388333.2:p.Leu225Val
ENST00000462797.5:c.919C>G	ENSP00000473773.1:p.Leu307Val
ENST00000465417.5:n.113-260C>G
ENST00000467774.1:n.201C>G
ENST00000486825.6:c.824C>G
ENST00000489945.5:c.*337C>G	ENSP00000473745.1:n.*337C>G
ENST00000491865.5:n.164-260C>G
ENST00000492612.6:c.763C>G
ENST00000495175.6:c.*341C>G	ENSP00000474264.1:n.*341C>G
ENST00000537440.5:c.17-260C>G	ENSP00000437700.1:n.17-260C>G
ENST00000541099.5:c.-140-2917C>G	ENSP00000437896.1:n.-140-2917C>G
NM_001312691.1:c.919C>G	NP_001299620.1:p.Leu307Val
NM_001312692.1:c.673C>G	NP_001299621.1:p.Leu225Val
NM_017646.4:c.919C>G	NP_060116.2:p.Leu307Val
NM_017646.5:c.919C>G	NP_060116.2:p.Leu307Val
NR_132401.1:n.935C>G
NR_132402.1:n.793C>G
NR_132403.1:n.789C>G
NR_132404.1:n.789C>G
NR_132405.1:n.785C>G
NR_132406.1:n.686-260C>G
NR_132407.1:n.553C>G
NR_132408.1:n.549C>G
NR_132409.1:n.410C>G
NR_132410.1:n.446-260C>G
NR_132412.1:n.307-260C>G
NR_132413.1:n.195-2917C>G
NR_132414.1:n.195-5644C>G
NR_132415.1:n.1026C>G
XM_005270954.1:c.676C>G	XP_005271011.1:p.Leu226Val
XM_006710706.1:c.496C>G	XP_006710769.1:p.Leu166Val
XM_005270954.2:c.676C>G	XP_005271011.1:p.Leu226Val
XR_946672.2:n.1019C>G
NM_017646.6:c.919C>G MANE Select	NP_060116.2:p.Leu307Val