Canonical Allele Identifier: CA339832611

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312913C>G (hg19) ; chr1:g.39847241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847241C>G , CM000663.2:g.39847241C>G	GRCh38
NC_000001.10:g.40312913C>G , CM000663.1:g.40312913C>G	GRCh37
NC_000001.9:g.40085500C>G	NCBI36
NG_042822.1:g.41271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.985G>C MANE Select	ENSP00000321810.5:p.Val329Leu
ENST00000648678.1:c.1877G>C	ENSP00000497805.1:n.1877G>C
ENST00000316891.9:c.985G>C	ENSP00000321810.5:p.Val329Leu
ENST00000372818.5:c.928+307G>C	ENSP00000361905.1:n.928+307G>C
ENST00000441669.6:c.739G>C	ENSP00000388333.2:p.Val247Leu
ENST00000462797.5:c.985G>C	ENSP00000473773.1:p.Val329Leu
ENST00000465417.5:n.169G>C
ENST00000467774.1:n.267G>C
ENST00000489945.5:c.*403G>C	ENSP00000473745.1:n.*403G>C
ENST00000491865.5:n.220G>C
ENST00000492612.6:c.829G>C
ENST00000495175.6:c.*407G>C	ENSP00000474264.1:n.*407G>C
ENST00000537440.5:c.73G>C	ENSP00000437700.1:p.Val25Leu
ENST00000541099.5:c.-140-2601G>C	ENSP00000437896.1:n.-140-2601G>C
NM_001312691.1:c.928+307G>C	NP_001299620.1:n.928+307G>C
NM_001312692.1:c.739G>C	NP_001299621.1:p.Val247Leu
NM_017646.4:c.985G>C	NP_060116.2:p.Val329Leu
NM_017646.5:c.985G>C	NP_060116.2:p.Val329Leu
NR_132401.1:n.1001G>C
NR_132402.1:n.859G>C
NR_132403.1:n.855G>C
NR_132404.1:n.855G>C
NR_132405.1:n.851G>C
NR_132406.1:n.742G>C
NR_132407.1:n.619G>C
NR_132408.1:n.615G>C
NR_132409.1:n.476G>C
NR_132410.1:n.502G>C
NR_132412.1:n.363G>C
NR_132413.1:n.195-2601G>C
NR_132414.1:n.195-5328G>C
NR_132415.1:n.1092G>C
XM_005270954.1:c.742G>C	XP_005271011.1:p.Val248Leu
XM_006710706.1:c.562G>C	XP_006710769.1:p.Val188Leu
XM_005270954.2:c.742G>C	XP_005271011.1:p.Val248Leu
XR_946672.2:n.1085G>C
NM_017646.6:c.985G>C MANE Select	NP_060116.2:p.Val329Leu