Canonical Allele Identifier: CA339832951

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312962C>G (hg19) ; chr1:g.39847290C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847290C>G , CM000663.2:g.39847290C>G	GRCh38
NC_000001.10:g.40312962C>G , CM000663.1:g.40312962C>G	GRCh37
NC_000001.9:g.40085549C>G	NCBI36
NG_042822.1:g.41222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.936G>C MANE Select	ENSP00000321810.5:p.Glu312Asp
ENST00000648678.1:c.1828G>C	ENSP00000497805.1:n.1828G>C
ENST00000316891.9:c.936G>C	ENSP00000321810.5:p.Glu312Asp
ENST00000372818.5:c.928+258G>C	ENSP00000361905.1:n.928+258G>C
ENST00000441669.6:c.690G>C	ENSP00000388333.2:p.Glu230Asp
ENST00000462797.5:c.936G>C	ENSP00000473773.1:p.Glu312Asp
ENST00000465417.5:n.120G>C
ENST00000467774.1:n.218G>C
ENST00000486825.6:c.841G>C
ENST00000489945.5:c.*354G>C	ENSP00000473745.1:n.*354G>C
ENST00000491865.5:n.171G>C
ENST00000492612.6:c.780G>C
ENST00000495175.6:c.*358G>C	ENSP00000474264.1:n.*358G>C
ENST00000537440.5:c.24G>C	ENSP00000437700.1:p.Glu8Asp
ENST00000541099.5:c.-140-2650G>C	ENSP00000437896.1:n.-140-2650G>C
NM_001312691.1:c.928+258G>C	NP_001299620.1:n.928+258G>C
NM_001312692.1:c.690G>C	NP_001299621.1:p.Glu230Asp
NM_017646.4:c.936G>C	NP_060116.2:p.Glu312Asp
NM_017646.5:c.936G>C	NP_060116.2:p.Glu312Asp
NR_132401.1:n.952G>C
NR_132402.1:n.810G>C
NR_132403.1:n.806G>C
NR_132404.1:n.806G>C
NR_132405.1:n.802G>C
NR_132406.1:n.693G>C
NR_132407.1:n.570G>C
NR_132408.1:n.566G>C
NR_132409.1:n.427G>C
NR_132410.1:n.453G>C
NR_132412.1:n.314G>C
NR_132413.1:n.195-2650G>C
NR_132414.1:n.195-5377G>C
NR_132415.1:n.1043G>C
XM_005270954.1:c.693G>C	XP_005271011.1:p.Glu231Asp
XM_006710706.1:c.513G>C	XP_006710769.1:p.Glu171Asp
XM_005270954.2:c.693G>C	XP_005271011.1:p.Glu231Asp
XR_946672.2:n.1036G>C
NM_017646.6:c.936G>C MANE Select	NP_060116.2:p.Glu312Asp