Canonical Allele Identifier: CA339833217

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313232G>C (hg19) ; chr1:g.39847560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847560G>C , CM000663.2:g.39847560G>C	GRCh38
NC_000001.10:g.40313232G>C , CM000663.1:g.40313232G>C	GRCh37
NC_000001.9:g.40085819G>C	NCBI36
NG_042822.1:g.40952C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.916C>G MANE Select	ENSP00000321810.5:p.Leu306Val
ENST00000648678.1:c.1808C>G	ENSP00000497805.1:n.1808C>G
ENST00000316891.9:c.916C>G	ENSP00000321810.5:p.Leu306Val
ENST00000372818.5:c.916C>G	ENSP00000361905.1:p.Leu306Val
ENST00000441669.6:c.670C>G	ENSP00000388333.2:p.Leu224Val
ENST00000462797.5:c.916C>G	ENSP00000473773.1:p.Leu306Val
ENST00000465417.5:n.113-263C>G
ENST00000467774.1:n.198C>G
ENST00000486825.6:c.821C>G
ENST00000489945.5:c.*334C>G	ENSP00000473745.1:n.*334C>G
ENST00000491865.5:n.164-263C>G
ENST00000492612.6:c.760C>G
ENST00000495175.6:c.*338C>G	ENSP00000474264.1:n.*338C>G
ENST00000537440.5:c.17-263C>G	ENSP00000437700.1:n.17-263C>G
ENST00000541099.5:c.-140-2920C>G	ENSP00000437896.1:n.-140-2920C>G
NM_001312691.1:c.916C>G	NP_001299620.1:p.Leu306Val
NM_001312692.1:c.670C>G	NP_001299621.1:p.Leu224Val
NM_017646.4:c.916C>G	NP_060116.2:p.Leu306Val
NM_017646.5:c.916C>G	NP_060116.2:p.Leu306Val
NR_132401.1:n.932C>G
NR_132402.1:n.790C>G
NR_132403.1:n.786C>G
NR_132404.1:n.786C>G
NR_132405.1:n.782C>G
NR_132406.1:n.686-263C>G
NR_132407.1:n.550C>G
NR_132408.1:n.546C>G
NR_132409.1:n.407C>G
NR_132410.1:n.446-263C>G
NR_132412.1:n.307-263C>G
NR_132413.1:n.195-2920C>G
NR_132414.1:n.195-5647C>G
NR_132415.1:n.1023C>G
XM_005270954.1:c.673C>G	XP_005271011.1:p.Leu225Val
XM_006710706.1:c.493C>G	XP_006710769.1:p.Leu165Val
XM_005270954.2:c.673C>G	XP_005271011.1:p.Leu225Val
XR_946672.2:n.1016C>G
NM_017646.6:c.916C>G MANE Select	NP_060116.2:p.Leu306Val