Canonical Allele Identifier: CA2645075348

Gene: TRIT1

Linked Data

• gnomAD v4: 1-39847163-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847163G>A , CM000663.2:g.39847163G>A	GRCh38
NC_000001.10:g.40312835G>A , CM000663.1:g.40312835G>A	GRCh37
NC_000001.9:g.40085422G>A	NCBI36
NG_042822.1:g.41349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.1006+57C>T MANE Select	ENSP00000321810.5:n.1006+57C>T
ENST00000648678.1:c.1898+57C>T	ENSP00000497805.1:n.1898+57C>T
ENST00000316891.9:c.1006+57C>T	ENSP00000321810.5:n.1006+57C>T
ENST00000372818.5:c.928+385C>T	ENSP00000361905.1:n.928+385C>T
ENST00000441669.6:c.760+57C>T	ENSP00000388333.2:n.760+57C>T
ENST00000462797.5:c.1006+57C>T	ENSP00000473773.1:n.1006+57C>T
ENST00000465417.5:n.190+57C>T
ENST00000467774.1:n.345C>T
ENST00000491865.5:n.241+57C>T
ENST00000492612.6:c.850+57C>T
ENST00000495175.6:c.*428+57C>T	ENSP00000474264.1:n.*428+57C>T
ENST00000537440.5:c.94+57C>T	ENSP00000437700.1:n.94+57C>T
ENST00000541099.5:c.-140-2523C>T	ENSP00000437896.1:n.-140-2523C>T
NM_001312691.1:c.928+385C>T	NP_001299620.1:n.928+385C>T
NM_001312692.1:c.760+57C>T	NP_001299621.1:n.760+57C>T
NM_017646.4:c.1006+57C>T	NP_060116.2:n.1006+57C>T
NM_017646.5:c.1006+57C>T	NP_060116.2:n.1006+57C>T
NR_132401.1:n.1022+57C>T
NR_132402.1:n.880+57C>T
NR_132403.1:n.876+57C>T
NR_132404.1:n.876+57C>T
NR_132405.1:n.872+57C>T
NR_132406.1:n.763+57C>T
NR_132407.1:n.640+57C>T
NR_132408.1:n.636+57C>T
NR_132409.1:n.497+57C>T
NR_132410.1:n.523+57C>T
NR_132412.1:n.384+57C>T
NR_132413.1:n.195-2523C>T
NR_132414.1:n.195-5250C>T
NR_132415.1:n.1113+57C>T
XM_005270954.1:c.763+57C>T	XP_005271011.1:n.763+57C>T
XM_006710706.1:c.583+57C>T	XP_006710769.1:n.583+57C>T
XM_005270954.2:c.763+57C>T	XP_005271011.1:n.763+57C>T
XR_946672.2:n.1106+57C>T
NM_017646.6:c.1006+57C>T MANE Select	NP_060116.2:n.1006+57C>T