Canonical Allele Identifier: CA514925547

Gene: TRMU

Linked Data

• ClinVar Variation Id: 1570669
• ClinVar RCV Id: RCV002215547
• dbSNP Id: rs2078448407
• gnomAD v4: 22-46352147-G-A
• MyVariant Identifiers: chr22:g.46748044G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352147G>A , CM000684.2:g.46352147G>A	GRCh38
NC_000022.10:g.46748044G>A , CM000684.1:g.46748044G>A	GRCh37
NC_000022.9:g.45126708G>A	NCBI36
NG_012173.1:g.21747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.726G>A
ENST00000642923.1:c.573G>A	ENSP00000494255.1:p.Lys191=
ENST00000643137.1:c.573G>A	ENSP00000495331.1:p.Lys191=
ENST00000644006.1:c.*122G>A	ENSP00000493778.1:n.*122G>A
ENST00000645026.1:n.729G>A
ENST00000645190.1:c.678G>A MANE Select	ENSP00000496496.1:p.Lys226=
ENST00000647301.1:c.*122G>A	ENSP00000496641.1:n.*122G>A
ENST00000290846.8:c.678G>A	ENSP00000290846.4:p.Lys226=
ENST00000381019.3:c.678G>A	ENSP00000370407.3:p.Lys226=
ENST00000381021.7:c.*271G>A	ENSP00000370409.3:n.*271G>A
ENST00000441818.5:c.*212G>A	ENSP00000393014.1:n.*212G>A
ENST00000453630.5:c.*216G>A	ENSP00000398488.1:n.*216G>A
ENST00000456595.5:c.*212G>A	ENSP00000413880.1:n.*212G>A
ENST00000457572.5:c.*122G>A	ENSP00000407700.1:n.*122G>A
ENST00000463785.1:n.146G>A
ENST00000479648.1:n.498G>A
ENST00000485175.5:n.638G>A
ENST00000486620.5:n.720G>A
NM_001282782.1:c.336G>A	NP_001269711.1:p.Lys112=
NM_001282783.1:c.258G>A	NP_001269712.1:p.Lys86=
NM_001282784.1:c.258G>A	NP_001269713.1:p.Lys86=
NM_001282785.1:c.678G>A	NP_001269714.1:p.Lys226=
NM_018006.4:c.678G>A	NP_060476.2:p.Lys226=
NR_104240.1:n.987G>A
NR_104241.1:n.880G>A
XM_005261678.1:c.282G>A	XP_005261735.1:p.Lys94=
XM_005261681.1:c.282G>A	XP_005261738.1:p.Lys94=
XM_011530271.1:c.573G>A	XP_011528573.1:p.Lys191=
XM_011530272.1:c.678G>A	XP_011528574.1:p.Lys226=
XM_011530273.1:c.678G>A	XP_011528575.1:p.Lys226=
XM_011530274.1:c.336G>A	XP_011528576.1:p.Lys112=
XM_011530275.1:c.282G>A	XP_011528577.1:p.Lys94=
XM_011530271.2:c.573G>A	XP_011528573.1:p.Lys191=
XM_011530272.2:c.678G>A	XP_011528574.1:p.Lys226=
XM_011530273.2:c.678G>A	XP_011528575.1:p.Lys226=
XM_011530274.2:c.336G>A	XP_011528576.1:p.Lys112=
XM_024452260.1:c.573G>A	XP_024308028.1:p.Lys191=
XR_001755261.2:n.724G>A
XR_001755262.2:n.724G>A
NM_018006.5:c.678G>A MANE Select	NP_060476.2:p.Lys226=
NM_001282782.2:c.336G>A	NP_001269711.1:p.Lys112=
NM_001282783.2:c.258G>A	NP_001269712.1:p.Lys86=
NM_001282784.2:c.258G>A	NP_001269713.1:p.Lys86=
NM_001282785.2:c.678G>A	NP_001269714.1:p.Lys226=
NR_104240.2:n.674G>A
NR_104241.2:n.567G>A