Canonical Allele Identifier: CA411946190

Gene: TRMU

Linked Data

• gnomAD v4: 22-46352158-A-G
• MyVariant Identifiers: chr22:g.46748055A>G (hg19) ; chr22:g.46352158A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352158A>G , CM000684.2:g.46352158A>G	GRCh38
NC_000022.10:g.46748055A>G , CM000684.1:g.46748055A>G	GRCh37
NC_000022.9:g.45126719A>G	NCBI36
NG_012173.1:g.21758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.737A>G
ENST00000642923.1:c.584A>G	ENSP00000494255.1:p.Glu195Gly
ENST00000643137.1:c.584A>G	ENSP00000495331.1:p.Glu195Gly
ENST00000644006.1:c.*133A>G	ENSP00000493778.1:n.*133A>G
ENST00000645026.1:n.740A>G
ENST00000645190.1:c.689A>G MANE Select	ENSP00000496496.1:p.Glu230Gly
ENST00000647301.1:c.*133A>G	ENSP00000496641.1:n.*133A>G
ENST00000290846.8:c.689A>G	ENSP00000290846.4:p.Glu230Gly
ENST00000381019.3:c.689A>G	ENSP00000370407.3:p.Glu230Gly
ENST00000381021.7:c.*282A>G	ENSP00000370409.3:n.*282A>G
ENST00000441818.5:c.*223A>G	ENSP00000393014.1:n.*223A>G
ENST00000453630.5:c.*227A>G	ENSP00000398488.1:n.*227A>G
ENST00000456595.5:c.*223A>G	ENSP00000413880.1:n.*223A>G
ENST00000457572.5:c.*133A>G	ENSP00000407700.1:n.*133A>G
ENST00000463785.1:n.157A>G
ENST00000479648.1:n.509A>G
ENST00000485175.5:n.649A>G
ENST00000486620.5:n.731A>G
NM_001282782.1:c.347A>G	NP_001269711.1:p.Glu116Gly
NM_001282783.1:c.269A>G	NP_001269712.1:p.Glu90Gly
NM_001282784.1:c.269A>G	NP_001269713.1:p.Glu90Gly
NM_001282785.1:c.689A>G	NP_001269714.1:p.Glu230Gly
NM_018006.4:c.689A>G	NP_060476.2:p.Glu230Gly
NR_104240.1:n.998A>G
NR_104241.1:n.891A>G
XM_005261678.1:c.293A>G	XP_005261735.1:p.Glu98Gly
XM_005261681.1:c.293A>G	XP_005261738.1:p.Glu98Gly
XM_011530271.1:c.584A>G	XP_011528573.1:p.Glu195Gly
XM_011530272.1:c.689A>G	XP_011528574.1:p.Glu230Gly
XM_011530273.1:c.689A>G	XP_011528575.1:p.Glu230Gly
XM_011530274.1:c.347A>G	XP_011528576.1:p.Glu116Gly
XM_011530275.1:c.293A>G	XP_011528577.1:p.Glu98Gly
XM_011530271.2:c.584A>G	XP_011528573.1:p.Glu195Gly
XM_011530272.2:c.689A>G	XP_011528574.1:p.Glu230Gly
XM_011530273.2:c.689A>G	XP_011528575.1:p.Glu230Gly
XM_011530274.2:c.347A>G	XP_011528576.1:p.Glu116Gly
XM_024452260.1:c.584A>G	XP_024308028.1:p.Glu195Gly
XR_001755261.2:n.735A>G
XR_001755262.2:n.735A>G
NM_018006.5:c.689A>G MANE Select	NP_060476.2:p.Glu230Gly
NM_001282782.2:c.347A>G	NP_001269711.1:p.Glu116Gly
NM_001282783.2:c.269A>G	NP_001269712.1:p.Glu90Gly
NM_001282784.2:c.269A>G	NP_001269713.1:p.Glu90Gly
NM_001282785.2:c.689A>G	NP_001269714.1:p.Glu230Gly
NR_104240.2:n.685A>G
NR_104241.2:n.578A>G