Canonical Allele Identifier: CA2573158380

Gene: TRMU

Linked Data

• ClinVar Variation Id: 1451272
• ClinVar RCV Id: RCV002007171
• dbSNP Id: rs2147095810

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352290dup , CM000684.2:g.46352290dup	GRCh38
NC_000022.10:g.46748187dup , CM000684.1:g.46748187dup	GRCh37
NC_000022.9:g.45126851dup	NCBI36
NG_012173.1:g.21890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.780dup
ENST00000642923.1:c.627dup	ENSP00000494255.1:p.Ile210TyrfsTer7
ENST00000643137.1:c.627dup	ENSP00000495331.1:p.Ile210TyrfsTer7
ENST00000644006.1:c.*176dup	ENSP00000493778.1:n.*176dup
ENST00000645026.1:n.783dup
ENST00000645190.1:c.732dup MANE Select	ENSP00000496496.1:p.Ile245TyrfsTer7
ENST00000647301.1:c.*176dup	ENSP00000496641.1:n.*176dup
ENST00000290846.8:c.732dup	ENSP00000290846.4:p.Ile245TyrfsTer7
ENST00000381019.3:c.732dup	ENSP00000370407.3:p.Ile245TyrfsTer7
ENST00000381021.7:c.*325dup	ENSP00000370409.3:n.*325dup
ENST00000441818.5:c.*266dup	ENSP00000393014.1:n.*266dup
ENST00000453630.5:c.*270dup	ENSP00000398488.1:n.*270dup
ENST00000456595.5:c.*266dup	ENSP00000413880.1:n.*266dup
ENST00000457572.5:c.*176dup	ENSP00000407700.1:n.*176dup
ENST00000463785.1:n.200dup
ENST00000479648.1:n.552dup
ENST00000485175.5:n.692dup
ENST00000486620.5:n.774dup
NM_001282782.1:c.390dup	NP_001269711.1:p.Ile131TyrfsTer7
NM_001282783.1:c.312dup	NP_001269712.1:p.Ile105TyrfsTer7
NM_001282784.1:c.312dup	NP_001269713.1:p.Ile105TyrfsTer7
NM_001282785.1:c.732dup	NP_001269714.1:p.Ile245TyrfsTer7
NM_018006.4:c.732dup	NP_060476.2:p.Ile245TyrfsTer7
NR_104240.1:n.1041dup
NR_104241.1:n.934dup
XM_005261678.1:c.336dup	XP_005261735.1:p.Ile113TyrfsTer7
XM_005261681.1:c.336dup	XP_005261738.1:p.Ile113TyrfsTer7
XM_011530271.1:c.627dup	XP_011528573.1:p.Ile210TyrfsTer7
XM_011530272.1:c.732dup	XP_011528574.1:p.Ile245TyrfsTer7
XM_011530273.1:c.732dup	XP_011528575.1:p.Ile245TyrfsTer7
XM_011530274.1:c.390dup	XP_011528576.1:p.Ile131TyrfsTer7
XM_011530275.1:c.336dup	XP_011528577.1:p.Ile113TyrfsTer7
XM_011530271.2:c.627dup	XP_011528573.1:p.Ile210TyrfsTer7
XM_011530272.2:c.732dup	XP_011528574.1:p.Ile245TyrfsTer7
XM_011530273.2:c.732dup	XP_011528575.1:p.Ile245TyrfsTer7
XM_011530274.2:c.390dup	XP_011528576.1:p.Ile131TyrfsTer7
XM_024452260.1:c.627dup	XP_024308028.1:p.Ile210TyrfsTer7
XR_001755261.2:n.778dup
XR_001755262.2:n.778dup
NM_018006.5:c.732dup MANE Select	NP_060476.2:p.Ile245TyrfsTer7
NM_001282782.2:c.390dup	NP_001269711.1:p.Ile131TyrfsTer7
NM_001282783.2:c.312dup	NP_001269712.1:p.Ile105TyrfsTer7
NM_001282784.2:c.312dup	NP_001269713.1:p.Ile105TyrfsTer7
NM_001282785.2:c.732dup	NP_001269714.1:p.Ile245TyrfsTer7
NR_104240.2:n.728dup
NR_104241.2:n.621dup