Canonical Allele Identifier: CA2743285339

Gene: TRIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847027A>G , CM000663.2:g.39847027A>G	GRCh38
NC_000001.10:g.40312699A>G , CM000663.1:g.40312699A>G	GRCh37
NC_000001.9:g.40085286A>G	NCBI36
NG_042822.1:g.41485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.1006+193T>C MANE Select	ENSP00000321810.5:n.1006+193T>C
ENST00000648678.1:c.1898+193T>C	ENSP00000497805.1:n.1898+193T>C
ENST00000316891.9:c.1006+193T>C	ENSP00000321810.5:n.1006+193T>C
ENST00000372818.5:c.928+521T>C	ENSP00000361905.1:n.928+521T>C
ENST00000441669.6:c.760+193T>C	ENSP00000388333.2:n.760+193T>C
ENST00000462797.5:c.1006+193T>C	ENSP00000473773.1:n.1006+193T>C
ENST00000465417.5:n.190+193T>C
ENST00000491865.5:n.241+193T>C
ENST00000492612.6:c.850+193T>C
ENST00000495175.6:c.*428+193T>C	ENSP00000474264.1:n.*428+193T>C
ENST00000537440.5:c.94+193T>C	ENSP00000437700.1:n.94+193T>C
ENST00000541099.5:c.-140-2387T>C	ENSP00000437896.1:n.-140-2387T>C
NM_001312691.1:c.928+521T>C	NP_001299620.1:n.928+521T>C
NM_001312692.1:c.760+193T>C	NP_001299621.1:n.760+193T>C
NM_017646.4:c.1006+193T>C	NP_060116.2:n.1006+193T>C
NM_017646.5:c.1006+193T>C	NP_060116.2:n.1006+193T>C
NR_132401.1:n.1022+193T>C
NR_132402.1:n.880+193T>C
NR_132403.1:n.876+193T>C
NR_132404.1:n.876+193T>C
NR_132405.1:n.872+193T>C
NR_132406.1:n.763+193T>C
NR_132407.1:n.640+193T>C
NR_132408.1:n.636+193T>C
NR_132409.1:n.497+193T>C
NR_132410.1:n.523+193T>C
NR_132412.1:n.384+193T>C
NR_132413.1:n.195-2387T>C
NR_132414.1:n.195-5114T>C
NR_132415.1:n.1113+193T>C
XM_005270954.1:c.763+193T>C	XP_005271011.1:n.763+193T>C
XM_006710706.1:c.583+193T>C	XP_006710769.1:n.583+193T>C
XM_005270954.2:c.763+193T>C	XP_005271011.1:n.763+193T>C
XR_946672.2:n.1106+193T>C
NM_017646.6:c.1006+193T>C MANE Select	NP_060116.2:n.1006+193T>C