Canonical Allele Identifier: CA339833142

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313220C>A (hg19) ; chr1:g.39847548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847548C>A , CM000663.2:g.39847548C>A	GRCh38
NC_000001.10:g.40313220C>A , CM000663.1:g.40313220C>A	GRCh37
NC_000001.9:g.40085807C>A	NCBI36
NG_042822.1:g.40964G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.928G>T MANE Select	ENSP00000321810.5:p.Gly310Cys
ENST00000648678.1:c.1820G>T	ENSP00000497805.1:n.1820G>T
ENST00000316891.9:c.928G>T	ENSP00000321810.5:p.Gly310Cys
ENST00000372818.5:c.928G>T	ENSP00000361905.1:p.Gly310Ter
ENST00000441669.6:c.682G>T	ENSP00000388333.2:p.Gly228Cys
ENST00000462797.5:c.928G>T	ENSP00000473773.1:p.Gly310Cys
ENST00000465417.5:n.113-251G>T
ENST00000467774.1:n.210G>T
ENST00000486825.6:c.833G>T
ENST00000489945.5:c.*346G>T	ENSP00000473745.1:n.*346G>T
ENST00000491865.5:n.164-251G>T
ENST00000492612.6:c.772G>T
ENST00000495175.6:c.*350G>T	ENSP00000474264.1:n.*350G>T
ENST00000537440.5:c.17-251G>T	ENSP00000437700.1:n.17-251G>T
ENST00000541099.5:c.-140-2908G>T	ENSP00000437896.1:n.-140-2908G>T
NM_001312691.1:c.928G>T	NP_001299620.1:p.Gly310Ter
NM_001312692.1:c.682G>T	NP_001299621.1:p.Gly228Cys
NM_017646.4:c.928G>T	NP_060116.2:p.Gly310Cys
NM_017646.5:c.928G>T	NP_060116.2:p.Gly310Cys
NR_132401.1:n.944G>T
NR_132402.1:n.802G>T
NR_132403.1:n.798G>T
NR_132404.1:n.798G>T
NR_132405.1:n.794G>T
NR_132406.1:n.686-251G>T
NR_132407.1:n.562G>T
NR_132408.1:n.558G>T
NR_132409.1:n.419G>T
NR_132410.1:n.446-251G>T
NR_132412.1:n.307-251G>T
NR_132413.1:n.195-2908G>T
NR_132414.1:n.195-5635G>T
NR_132415.1:n.1035G>T
XM_005270954.1:c.685G>T	XP_005271011.1:p.Gly229Cys
XM_006710706.1:c.505G>T	XP_006710769.1:p.Gly169Cys
XM_005270954.2:c.685G>T	XP_005271011.1:p.Gly229Cys
XR_946672.2:n.1028G>T
NM_017646.6:c.928G>T MANE Select	NP_060116.2:p.Gly310Cys