Canonical Allele Identifier: CA10292165

Gene: TRMU

Linked Data

• dbSNP Id: rs754438833
• ExAC: 22:46748054 G / A
• MyVariant Identifiers: chr22:g.46748054G>A (hg19) ; chr22:g.46352157G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352157G>A , CM000684.2:g.46352157G>A	GRCh38
NC_000022.10:g.46748054G>A , CM000684.1:g.46748054G>A	GRCh37
NC_000022.9:g.45126718G>A	NCBI36
NG_012173.1:g.21757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.736G>A
ENST00000642923.1:c.583G>A	ENSP00000494255.1:p.Glu195Lys
ENST00000643137.1:c.583G>A	ENSP00000495331.1:p.Glu195Lys
ENST00000644006.1:c.*132G>A	ENSP00000493778.1:n.*132G>A
ENST00000645026.1:n.739G>A
ENST00000645190.1:c.688G>A MANE Select	ENSP00000496496.1:p.Glu230Lys
ENST00000647301.1:c.*132G>A	ENSP00000496641.1:n.*132G>A
ENST00000290846.8:c.688G>A	ENSP00000290846.4:p.Glu230Lys
ENST00000381019.3:c.688G>A	ENSP00000370407.3:p.Glu230Lys
ENST00000381021.7:c.*281G>A	ENSP00000370409.3:n.*281G>A
ENST00000441818.5:c.*222G>A	ENSP00000393014.1:n.*222G>A
ENST00000453630.5:c.*226G>A	ENSP00000398488.1:n.*226G>A
ENST00000456595.5:c.*222G>A	ENSP00000413880.1:n.*222G>A
ENST00000457572.5:c.*132G>A	ENSP00000407700.1:n.*132G>A
ENST00000463785.1:n.156G>A
ENST00000479648.1:n.508G>A
ENST00000485175.5:n.648G>A
ENST00000486620.5:n.730G>A
NM_001282782.1:c.346G>A	NP_001269711.1:p.Glu116Lys
NM_001282783.1:c.268G>A	NP_001269712.1:p.Glu90Lys
NM_001282784.1:c.268G>A	NP_001269713.1:p.Glu90Lys
NM_001282785.1:c.688G>A	NP_001269714.1:p.Glu230Lys
NM_018006.4:c.688G>A	NP_060476.2:p.Glu230Lys
NR_104240.1:n.997G>A
NR_104241.1:n.890G>A
XM_005261678.1:c.292G>A	XP_005261735.1:p.Glu98Lys
XM_005261681.1:c.292G>A	XP_005261738.1:p.Glu98Lys
XM_011530271.1:c.583G>A	XP_011528573.1:p.Glu195Lys
XM_011530272.1:c.688G>A	XP_011528574.1:p.Glu230Lys
XM_011530273.1:c.688G>A	XP_011528575.1:p.Glu230Lys
XM_011530274.1:c.346G>A	XP_011528576.1:p.Glu116Lys
XM_011530275.1:c.292G>A	XP_011528577.1:p.Glu98Lys
XM_011530271.2:c.583G>A	XP_011528573.1:p.Glu195Lys
XM_011530272.2:c.688G>A	XP_011528574.1:p.Glu230Lys
XM_011530273.2:c.688G>A	XP_011528575.1:p.Glu230Lys
XM_011530274.2:c.346G>A	XP_011528576.1:p.Glu116Lys
XM_024452260.1:c.583G>A	XP_024308028.1:p.Glu195Lys
XR_001755261.2:n.734G>A
XR_001755262.2:n.734G>A
NM_018006.5:c.688G>A MANE Select	NP_060476.2:p.Glu230Lys
NM_001282782.2:c.346G>A	NP_001269711.1:p.Glu116Lys
NM_001282783.2:c.268G>A	NP_001269712.1:p.Glu90Lys
NM_001282784.2:c.268G>A	NP_001269713.1:p.Glu90Lys
NM_001282785.2:c.688G>A	NP_001269714.1:p.Glu230Lys
NR_104240.2:n.684G>A
NR_104241.2:n.577G>A