Canonical Allele Identifier: CA411946471

Gene: TRMU

Linked Data

• MyVariant Identifiers: chr22:g.46748198A>T (hg19) ; chr22:g.46352301A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352301A>T , CM000684.2:g.46352301A>T	GRCh38
NC_000022.10:g.46748198A>T , CM000684.1:g.46748198A>T	GRCh37
NC_000022.9:g.45126862A>T	NCBI36
NG_012173.1:g.21901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.791A>T
ENST00000642923.1:c.638A>T	ENSP00000494255.1:p.Glu213Val
ENST00000643137.1:c.638A>T	ENSP00000495331.1:p.Glu213Val
ENST00000644006.1:c.*187A>T	ENSP00000493778.1:n.*187A>T
ENST00000645026.1:n.794A>T
ENST00000645190.1:c.743A>T MANE Select	ENSP00000496496.1:p.Glu248Val
ENST00000647301.1:c.*187A>T	ENSP00000496641.1:n.*187A>T
ENST00000290846.8:c.743A>T	ENSP00000290846.4:p.Glu248Val
ENST00000381019.3:c.743A>T	ENSP00000370407.3:p.Glu248Val
ENST00000381021.7:c.*336A>T	ENSP00000370409.3:n.*336A>T
ENST00000441818.5:c.*277A>T	ENSP00000393014.1:n.*277A>T
ENST00000453630.5:c.*281A>T	ENSP00000398488.1:n.*281A>T
ENST00000456595.5:c.*277A>T	ENSP00000413880.1:n.*277A>T
ENST00000457572.5:c.*187A>T	ENSP00000407700.1:n.*187A>T
ENST00000463785.1:n.211A>T
ENST00000479648.1:n.563A>T
ENST00000485175.5:n.703A>T
ENST00000486620.5:n.785A>T
NM_001282782.1:c.401A>T	NP_001269711.1:p.Glu134Val
NM_001282783.1:c.323A>T	NP_001269712.1:p.Glu108Val
NM_001282784.1:c.323A>T	NP_001269713.1:p.Glu108Val
NM_001282785.1:c.743A>T	NP_001269714.1:p.Glu248Val
NM_018006.4:c.743A>T	NP_060476.2:p.Glu248Val
NR_104240.1:n.1052A>T
NR_104241.1:n.945A>T
XM_005261678.1:c.347A>T	XP_005261735.1:p.Glu116Val
XM_005261681.1:c.347A>T	XP_005261738.1:p.Glu116Val
XM_011530271.1:c.638A>T	XP_011528573.1:p.Glu213Val
XM_011530272.1:c.743A>T	XP_011528574.1:p.Glu248Val
XM_011530273.1:c.743A>T	XP_011528575.1:p.Glu248Val
XM_011530274.1:c.401A>T	XP_011528576.1:p.Glu134Val
XM_011530275.1:c.347A>T	XP_011528577.1:p.Glu116Val
XM_011530271.2:c.638A>T	XP_011528573.1:p.Glu213Val
XM_011530272.2:c.743A>T	XP_011528574.1:p.Glu248Val
XM_011530273.2:c.743A>T	XP_011528575.1:p.Glu248Val
XM_011530274.2:c.401A>T	XP_011528576.1:p.Glu134Val
XM_024452260.1:c.638A>T	XP_024308028.1:p.Glu213Val
XR_001755261.2:n.789A>T
XR_001755262.2:n.789A>T
NM_018006.5:c.743A>T MANE Select	NP_060476.2:p.Glu248Val
NM_001282782.2:c.401A>T	NP_001269711.1:p.Glu134Val
NM_001282783.2:c.323A>T	NP_001269712.1:p.Glu108Val
NM_001282784.2:c.323A>T	NP_001269713.1:p.Glu108Val
NM_001282785.2:c.743A>T	NP_001269714.1:p.Glu248Val
NR_104240.2:n.739A>T
NR_104241.2:n.632A>T