Canonical Allele Identifier: CA339833222

Gene: TRIT1

Linked Data

• MyVariant Identifiers: chr1:g.40313233C>A (hg19) ; chr1:g.39847561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39847561C>A , CM000663.2:g.39847561C>A	GRCh38
NC_000001.10:g.40313233C>A , CM000663.1:g.40313233C>A	GRCh37
NC_000001.9:g.40085820C>A	NCBI36
NG_042822.1:g.40951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316891.10:c.915G>T MANE Select	ENSP00000321810.5:p.Gln305His
ENST00000648678.1:c.1807G>T	ENSP00000497805.1:n.1807G>T
ENST00000316891.9:c.915G>T	ENSP00000321810.5:p.Gln305His
ENST00000372818.5:c.915G>T	ENSP00000361905.1:p.Gln305His
ENST00000441669.6:c.669G>T	ENSP00000388333.2:p.Gln223His
ENST00000462797.5:c.915G>T	ENSP00000473773.1:p.Gln305His
ENST00000465417.5:n.113-264G>T
ENST00000467774.1:n.197G>T
ENST00000486825.6:c.820G>T
ENST00000489945.5:c.*333G>T	ENSP00000473745.1:n.*333G>T
ENST00000491865.5:n.164-264G>T
ENST00000492612.6:c.759G>T
ENST00000495175.6:c.*337G>T	ENSP00000474264.1:n.*337G>T
ENST00000537440.5:c.17-264G>T	ENSP00000437700.1:n.17-264G>T
ENST00000541099.5:c.-140-2921G>T	ENSP00000437896.1:n.-140-2921G>T
NM_001312691.1:c.915G>T	NP_001299620.1:p.Gln305His
NM_001312692.1:c.669G>T	NP_001299621.1:p.Gln223His
NM_017646.4:c.915G>T	NP_060116.2:p.Gln305His
NM_017646.5:c.915G>T	NP_060116.2:p.Gln305His
NR_132401.1:n.931G>T
NR_132402.1:n.789G>T
NR_132403.1:n.785G>T
NR_132404.1:n.785G>T
NR_132405.1:n.781G>T
NR_132406.1:n.686-264G>T
NR_132407.1:n.549G>T
NR_132408.1:n.545G>T
NR_132409.1:n.406G>T
NR_132410.1:n.446-264G>T
NR_132412.1:n.307-264G>T
NR_132413.1:n.195-2921G>T
NR_132414.1:n.195-5648G>T
NR_132415.1:n.1022G>T
XM_005270954.1:c.672G>T	XP_005271011.1:p.Gln224His
XM_006710706.1:c.492G>T	XP_006710769.1:p.Gln164His
XM_005270954.2:c.672G>T	XP_005271011.1:p.Gln224His
XR_946672.2:n.1015G>T
NM_017646.6:c.915G>T MANE Select	NP_060116.2:p.Gln305His