Canonical Allele Identifier: CA417301843

Gene: TRIT1

Linked Data

• gnomAD v4: 1-39847269-C-T
• MyVariant Identifiers: chr1:g.40312941C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847269C>T , CM000663.2:g.39847269C>T	GRCh38
NC_000001.10:g.40312941C>T , CM000663.1:g.40312941C>T	GRCh37
NC_000001.9:g.40085528C>T	NCBI36
NG_042822.1:g.41243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.957G>A MANE Select	ENSP00000321810.5:p.Lys319=
ENST00000648678.1:c.1849G>A	ENSP00000497805.1:n.1849G>A
ENST00000316891.9:c.957G>A	ENSP00000321810.5:p.Lys319=
ENST00000372818.5:c.928+279G>A	ENSP00000361905.1:n.928+279G>A
ENST00000441669.6:c.711G>A	ENSP00000388333.2:p.Lys237=
ENST00000462797.5:c.957G>A	ENSP00000473773.1:p.Lys319=
ENST00000465417.5:n.141G>A
ENST00000467774.1:n.239G>A
ENST00000489945.5:c.*375G>A	ENSP00000473745.1:n.*375G>A
ENST00000491865.5:n.192G>A
ENST00000492612.6:c.801G>A
ENST00000495175.6:c.*379G>A	ENSP00000474264.1:n.*379G>A
ENST00000537440.5:c.45G>A	ENSP00000437700.1:p.Lys15=
ENST00000541099.5:c.-140-2629G>A	ENSP00000437896.1:n.-140-2629G>A
NM_001312691.1:c.928+279G>A	NP_001299620.1:n.928+279G>A
NM_001312692.1:c.711G>A	NP_001299621.1:p.Lys237=
NM_017646.4:c.957G>A	NP_060116.2:p.Lys319=
NM_017646.5:c.957G>A	NP_060116.2:p.Lys319=
NR_132401.1:n.973G>A
NR_132402.1:n.831G>A
NR_132403.1:n.827G>A
NR_132404.1:n.827G>A
NR_132405.1:n.823G>A
NR_132406.1:n.714G>A
NR_132407.1:n.591G>A
NR_132408.1:n.587G>A
NR_132409.1:n.448G>A
NR_132410.1:n.474G>A
NR_132412.1:n.335G>A
NR_132413.1:n.195-2629G>A
NR_132414.1:n.195-5356G>A
NR_132415.1:n.1064G>A
XM_005270954.1:c.714G>A	XP_005271011.1:p.Lys238=
XM_006710706.1:c.534G>A	XP_006710769.1:p.Lys178=
XM_005270954.2:c.714G>A	XP_005271011.1:p.Lys238=
XR_946672.2:n.1057G>A
NM_017646.6:c.957G>A MANE Select	NP_060116.2:p.Lys319=