Canonical Allele Identifier: CA522401358

Gene: TRIT1

Linked Data

• dbSNP Id: rs1428679782
• gnomAD v2: 1-40313025-G-A
• gnomAD v3: 1-39847353-G-A
• gnomAD v4: 1-39847353-G-A
• MyVariant Identifiers: chr1:g.40313025G>A (hg19) ; chr1:g.39847353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847353G>A , CM000663.2:g.39847353G>A	GRCh38
NC_000001.10:g.40313025G>A , CM000663.1:g.40313025G>A	GRCh37
NC_000001.9:g.40085612G>A	NCBI36
NG_042822.1:g.41159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.929-56C>T MANE Select	ENSP00000321810.5:n.929-56C>T
ENST00000648678.1:c.1821-56C>T	ENSP00000497805.1:n.1821-56C>T
ENST00000316891.9:c.929-56C>T	ENSP00000321810.5:n.929-56C>T
ENST00000372818.5:c.928+195C>T	ENSP00000361905.1:n.928+195C>T
ENST00000441669.6:c.683-56C>T	ENSP00000388333.2:n.683-56C>T
ENST00000462797.5:c.929-56C>T	ENSP00000473773.1:n.929-56C>T
ENST00000465417.5:n.113-56C>T
ENST00000467774.1:n.211-56C>T
ENST00000486825.6:c.834-56C>T
ENST00000489945.5:c.*347-56C>T	ENSP00000473745.1:n.*347-56C>T
ENST00000491865.5:n.164-56C>T
ENST00000492612.6:c.773-56C>T
ENST00000495175.6:c.*351-56C>T	ENSP00000474264.1:n.*351-56C>T
ENST00000537440.5:c.17-56C>T	ENSP00000437700.1:n.17-56C>T
ENST00000541099.5:c.-140-2713C>T	ENSP00000437896.1:n.-140-2713C>T
NM_001312691.1:c.928+195C>T	NP_001299620.1:n.928+195C>T
NM_001312692.1:c.683-56C>T	NP_001299621.1:n.683-56C>T
NM_017646.4:c.929-56C>T	NP_060116.2:n.929-56C>T
NM_017646.5:c.929-56C>T	NP_060116.2:n.929-56C>T
NR_132401.1:n.945-56C>T
NR_132402.1:n.803-56C>T
NR_132403.1:n.799-56C>T
NR_132404.1:n.799-56C>T
NR_132405.1:n.795-56C>T
NR_132406.1:n.686-56C>T
NR_132407.1:n.563-56C>T
NR_132408.1:n.559-56C>T
NR_132409.1:n.420-56C>T
NR_132410.1:n.446-56C>T
NR_132412.1:n.307-56C>T
NR_132413.1:n.195-2713C>T
NR_132414.1:n.195-5440C>T
NR_132415.1:n.1036-56C>T
XM_005270954.1:c.686-56C>T	XP_005271011.1:n.686-56C>T
XM_006710706.1:c.506-56C>T	XP_006710769.1:n.506-56C>T
XM_005270954.2:c.686-56C>T	XP_005271011.1:n.686-56C>T
XR_946672.2:n.1029-56C>T
NM_017646.6:c.929-56C>T MANE Select	NP_060116.2:n.929-56C>T