Canonical Allele Identifier: CA417302023

Gene: TRIT1

Linked Data

• gnomAD v4: 1-39847555-T-C
• MyVariant Identifiers: chr1:g.40313227T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847555T>C , CM000663.2:g.39847555T>C	GRCh38
NC_000001.10:g.40313227T>C , CM000663.1:g.40313227T>C	GRCh37
NC_000001.9:g.40085814T>C	NCBI36
NG_042822.1:g.40957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.921A>G MANE Select	ENSP00000321810.5:p.Leu307=
ENST00000648678.1:c.1813A>G	ENSP00000497805.1:n.1813A>G
ENST00000316891.9:c.921A>G	ENSP00000321810.5:p.Leu307=
ENST00000372818.5:c.921A>G	ENSP00000361905.1:p.Leu307=
ENST00000441669.6:c.675A>G	ENSP00000388333.2:p.Leu225=
ENST00000462797.5:c.921A>G	ENSP00000473773.1:p.Leu307=
ENST00000465417.5:n.113-258A>G
ENST00000467774.1:n.203A>G
ENST00000486825.6:c.826A>G
ENST00000489945.5:c.*339A>G	ENSP00000473745.1:n.*339A>G
ENST00000491865.5:n.164-258A>G
ENST00000492612.6:c.765A>G
ENST00000495175.6:c.*343A>G	ENSP00000474264.1:n.*343A>G
ENST00000537440.5:c.17-258A>G	ENSP00000437700.1:n.17-258A>G
ENST00000541099.5:c.-140-2915A>G	ENSP00000437896.1:n.-140-2915A>G
NM_001312691.1:c.921A>G	NP_001299620.1:p.Leu307=
NM_001312692.1:c.675A>G	NP_001299621.1:p.Leu225=
NM_017646.4:c.921A>G	NP_060116.2:p.Leu307=
NM_017646.5:c.921A>G	NP_060116.2:p.Leu307=
NR_132401.1:n.937A>G
NR_132402.1:n.795A>G
NR_132403.1:n.791A>G
NR_132404.1:n.791A>G
NR_132405.1:n.787A>G
NR_132406.1:n.686-258A>G
NR_132407.1:n.555A>G
NR_132408.1:n.551A>G
NR_132409.1:n.412A>G
NR_132410.1:n.446-258A>G
NR_132412.1:n.307-258A>G
NR_132413.1:n.195-2915A>G
NR_132414.1:n.195-5642A>G
NR_132415.1:n.1028A>G
XM_005270954.1:c.678A>G	XP_005271011.1:p.Leu226=
XM_006710706.1:c.498A>G	XP_006710769.1:p.Leu166=
XM_005270954.2:c.678A>G	XP_005271011.1:p.Leu226=
XR_946672.2:n.1021A>G
NM_017646.6:c.921A>G MANE Select	NP_060116.2:p.Leu307=