Canonical Allele Identifier: CA339833162

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313222T>G (hg19) ; chr1:g.39847550T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847550T>G , CM000663.2:g.39847550T>G	GRCh38
NC_000001.10:g.40313222T>G , CM000663.1:g.40313222T>G	GRCh37
NC_000001.9:g.40085809T>G	NCBI36
NG_042822.1:g.40962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.926A>C MANE Select	ENSP00000321810.5:p.Lys309Thr
ENST00000648678.1:c.1818A>C	ENSP00000497805.1:n.1818A>C
ENST00000316891.9:c.926A>C	ENSP00000321810.5:p.Lys309Thr
ENST00000372818.5:c.926A>C	ENSP00000361905.1:p.Lys309Thr
ENST00000441669.6:c.680A>C	ENSP00000388333.2:p.Lys227Thr
ENST00000462797.5:c.926A>C	ENSP00000473773.1:p.Lys309Thr
ENST00000465417.5:n.113-253A>C
ENST00000467774.1:n.208A>C
ENST00000486825.6:c.831A>C
ENST00000489945.5:c.*344A>C	ENSP00000473745.1:n.*344A>C
ENST00000491865.5:n.164-253A>C
ENST00000492612.6:c.770A>C
ENST00000495175.6:c.*348A>C	ENSP00000474264.1:n.*348A>C
ENST00000537440.5:c.17-253A>C	ENSP00000437700.1:n.17-253A>C
ENST00000541099.5:c.-140-2910A>C	ENSP00000437896.1:n.-140-2910A>C
NM_001312691.1:c.926A>C	NP_001299620.1:p.Lys309Thr
NM_001312692.1:c.680A>C	NP_001299621.1:p.Lys227Thr
NM_017646.4:c.926A>C	NP_060116.2:p.Lys309Thr
NM_017646.5:c.926A>C	NP_060116.2:p.Lys309Thr
NR_132401.1:n.942A>C
NR_132402.1:n.800A>C
NR_132403.1:n.796A>C
NR_132404.1:n.796A>C
NR_132405.1:n.792A>C
NR_132406.1:n.686-253A>C
NR_132407.1:n.560A>C
NR_132408.1:n.556A>C
NR_132409.1:n.417A>C
NR_132410.1:n.446-253A>C
NR_132412.1:n.307-253A>C
NR_132413.1:n.195-2910A>C
NR_132414.1:n.195-5637A>C
NR_132415.1:n.1033A>C
XM_005270954.1:c.683A>C	XP_005271011.1:p.Lys228Thr
XM_006710706.1:c.503A>C	XP_006710769.1:p.Lys168Thr
XM_005270954.2:c.683A>C	XP_005271011.1:p.Lys228Thr
XR_946672.2:n.1026A>C
NM_017646.6:c.926A>C MANE Select	NP_060116.2:p.Lys309Thr