Canonical Allele Identifier: CA339833265

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313240C>A (hg19) ; chr1:g.39847568C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847568C>A , CM000663.2:g.39847568C>A	GRCh38
NC_000001.10:g.40313240C>A , CM000663.1:g.40313240C>A	GRCh37
NC_000001.9:g.40085827C>A	NCBI36
NG_042822.1:g.40944G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.908G>T MANE Select	ENSP00000321810.5:p.Ser303Ile
ENST00000648678.1:c.1800G>T	ENSP00000497805.1:n.1800G>T
ENST00000316891.9:c.908G>T	ENSP00000321810.5:p.Ser303Ile
ENST00000372818.5:c.908G>T	ENSP00000361905.1:p.Ser303Ile
ENST00000441669.6:c.662G>T	ENSP00000388333.2:p.Ser221Ile
ENST00000462797.5:c.908G>T	ENSP00000473773.1:p.Ser303Ile
ENST00000465417.5:n.113-271G>T
ENST00000467774.1:n.190G>T
ENST00000486825.6:c.813G>T
ENST00000489945.5:c.*326G>T	ENSP00000473745.1:n.*326G>T
ENST00000491865.5:n.164-271G>T
ENST00000492612.6:c.752G>T
ENST00000495175.6:c.*330G>T	ENSP00000474264.1:n.*330G>T
ENST00000537440.5:c.17-271G>T	ENSP00000437700.1:n.17-271G>T
ENST00000541099.5:c.-140-2928G>T	ENSP00000437896.1:n.-140-2928G>T
NM_001312691.1:c.908G>T	NP_001299620.1:p.Ser303Ile
NM_001312692.1:c.662G>T	NP_001299621.1:p.Ser221Ile
NM_017646.4:c.908G>T	NP_060116.2:p.Ser303Ile
NM_017646.5:c.908G>T	NP_060116.2:p.Ser303Ile
NR_132401.1:n.924G>T
NR_132402.1:n.782G>T
NR_132403.1:n.778G>T
NR_132404.1:n.778G>T
NR_132405.1:n.774G>T
NR_132406.1:n.686-271G>T
NR_132407.1:n.542G>T
NR_132408.1:n.538G>T
NR_132409.1:n.399G>T
NR_132410.1:n.446-271G>T
NR_132412.1:n.307-271G>T
NR_132413.1:n.195-2928G>T
NR_132414.1:n.195-5655G>T
NR_132415.1:n.1015G>T
XM_005270954.1:c.665G>T	XP_005271011.1:p.Ser222Ile
XM_006710706.1:c.485G>T	XP_006710769.1:p.Ser162Ile
XM_005270954.2:c.665G>T	XP_005271011.1:p.Ser222Ile
XR_946672.2:n.1008G>T
NM_017646.6:c.908G>T MANE Select	NP_060116.2:p.Ser303Ile