Canonical Allele Identifier: CA339832863

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40312949C>A (hg19) ; chr1:g.39847277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847277C>A , CM000663.2:g.39847277C>A	GRCh38
NC_000001.10:g.40312949C>A , CM000663.1:g.40312949C>A	GRCh37
NC_000001.9:g.40085536C>A	NCBI36
NG_042822.1:g.41235G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.949G>T MANE Select	ENSP00000321810.5:p.Val317Leu
ENST00000648678.1:c.1841G>T	ENSP00000497805.1:n.1841G>T
ENST00000316891.9:c.949G>T	ENSP00000321810.5:p.Val317Leu
ENST00000372818.5:c.928+271G>T	ENSP00000361905.1:n.928+271G>T
ENST00000441669.6:c.703G>T	ENSP00000388333.2:p.Val235Leu
ENST00000462797.5:c.949G>T	ENSP00000473773.1:p.Val317Leu
ENST00000465417.5:n.133G>T
ENST00000467774.1:n.231G>T
ENST00000489945.5:c.*367G>T	ENSP00000473745.1:n.*367G>T
ENST00000491865.5:n.184G>T
ENST00000492612.6:c.793G>T
ENST00000495175.6:c.*371G>T	ENSP00000474264.1:n.*371G>T
ENST00000537440.5:c.37G>T	ENSP00000437700.1:p.Val13Leu
ENST00000541099.5:c.-140-2637G>T	ENSP00000437896.1:n.-140-2637G>T
NM_001312691.1:c.928+271G>T	NP_001299620.1:n.928+271G>T
NM_001312692.1:c.703G>T	NP_001299621.1:p.Val235Leu
NM_017646.4:c.949G>T	NP_060116.2:p.Val317Leu
NM_017646.5:c.949G>T	NP_060116.2:p.Val317Leu
NR_132401.1:n.965G>T
NR_132402.1:n.823G>T
NR_132403.1:n.819G>T
NR_132404.1:n.819G>T
NR_132405.1:n.815G>T
NR_132406.1:n.706G>T
NR_132407.1:n.583G>T
NR_132408.1:n.579G>T
NR_132409.1:n.440G>T
NR_132410.1:n.466G>T
NR_132412.1:n.327G>T
NR_132413.1:n.195-2637G>T
NR_132414.1:n.195-5364G>T
NR_132415.1:n.1056G>T
XM_005270954.1:c.706G>T	XP_005271011.1:p.Val236Leu
XM_006710706.1:c.526G>T	XP_006710769.1:p.Val176Leu
XM_005270954.2:c.706G>T	XP_005271011.1:p.Val236Leu
XR_946672.2:n.1049G>T
NM_017646.6:c.949G>T MANE Select	NP_060116.2:p.Val317Leu