Canonical Allele Identifier: CA411946167

Gene: TRMU

Linked Data

• gnomAD v4: 22-46352149-G-A
• MyVariant Identifiers: chr22:g.46748046G>A (hg19) ; chr22:g.46352149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352149G>A , CM000684.2:g.46352149G>A	GRCh38
NC_000022.10:g.46748046G>A , CM000684.1:g.46748046G>A	GRCh37
NC_000022.9:g.45126710G>A	NCBI36
NG_012173.1:g.21749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.728G>A
ENST00000642923.1:c.575G>A	ENSP00000494255.1:p.Arg192Lys
ENST00000643137.1:c.575G>A	ENSP00000495331.1:p.Arg192Lys
ENST00000644006.1:c.*124G>A	ENSP00000493778.1:n.*124G>A
ENST00000645026.1:n.731G>A
ENST00000645190.1:c.680G>A MANE Select	ENSP00000496496.1:p.Arg227Lys
ENST00000647301.1:c.*124G>A	ENSP00000496641.1:n.*124G>A
ENST00000290846.8:c.680G>A	ENSP00000290846.4:p.Arg227Lys
ENST00000381019.3:c.680G>A	ENSP00000370407.3:p.Arg227Lys
ENST00000381021.7:c.*273G>A	ENSP00000370409.3:n.*273G>A
ENST00000441818.5:c.*214G>A	ENSP00000393014.1:n.*214G>A
ENST00000453630.5:c.*218G>A	ENSP00000398488.1:n.*218G>A
ENST00000456595.5:c.*214G>A	ENSP00000413880.1:n.*214G>A
ENST00000457572.5:c.*124G>A	ENSP00000407700.1:n.*124G>A
ENST00000463785.1:n.148G>A
ENST00000479648.1:n.500G>A
ENST00000485175.5:n.640G>A
ENST00000486620.5:n.722G>A
NM_001282782.1:c.338G>A	NP_001269711.1:p.Arg113Lys
NM_001282783.1:c.260G>A	NP_001269712.1:p.Arg87Lys
NM_001282784.1:c.260G>A	NP_001269713.1:p.Arg87Lys
NM_001282785.1:c.680G>A	NP_001269714.1:p.Arg227Lys
NM_018006.4:c.680G>A	NP_060476.2:p.Arg227Lys
NR_104240.1:n.989G>A
NR_104241.1:n.882G>A
XM_005261678.1:c.284G>A	XP_005261735.1:p.Arg95Lys
XM_005261681.1:c.284G>A	XP_005261738.1:p.Arg95Lys
XM_011530271.1:c.575G>A	XP_011528573.1:p.Arg192Lys
XM_011530272.1:c.680G>A	XP_011528574.1:p.Arg227Lys
XM_011530273.1:c.680G>A	XP_011528575.1:p.Arg227Lys
XM_011530274.1:c.338G>A	XP_011528576.1:p.Arg113Lys
XM_011530275.1:c.284G>A	XP_011528577.1:p.Arg95Lys
XM_011530271.2:c.575G>A	XP_011528573.1:p.Arg192Lys
XM_011530272.2:c.680G>A	XP_011528574.1:p.Arg227Lys
XM_011530273.2:c.680G>A	XP_011528575.1:p.Arg227Lys
XM_011530274.2:c.338G>A	XP_011528576.1:p.Arg113Lys
XM_024452260.1:c.575G>A	XP_024308028.1:p.Arg192Lys
XR_001755261.2:n.726G>A
XR_001755262.2:n.726G>A
NM_018006.5:c.680G>A MANE Select	NP_060476.2:p.Arg227Lys
NM_001282782.2:c.338G>A	NP_001269711.1:p.Arg113Lys
NM_001282783.2:c.260G>A	NP_001269712.1:p.Arg87Lys
NM_001282784.2:c.260G>A	NP_001269713.1:p.Arg87Lys
NM_001282785.2:c.680G>A	NP_001269714.1:p.Arg227Lys
NR_104240.2:n.676G>A
NR_104241.2:n.569G>A