Canonical Allele Identifier: CA411946222

Gene: TRMU

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352172C>T , CM000684.2:g.46352172C>T	GRCh38
NC_000022.10:g.46748069C>T , CM000684.1:g.46748069C>T	GRCh37
NC_000022.9:g.45126733C>T	NCBI36
NG_012173.1:g.21772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.751C>T
ENST00000642923.1:c.598C>T	ENSP00000494255.1:p.Gln200Ter
ENST00000643137.1:c.598C>T	ENSP00000495331.1:p.Gln200Ter
ENST00000644006.1:c.*147C>T	ENSP00000493778.1:n.*147C>T
ENST00000645026.1:n.754C>T
ENST00000645190.1:c.703C>T MANE Select	ENSP00000496496.1:p.Gln235Ter
ENST00000647301.1:c.*147C>T	ENSP00000496641.1:n.*147C>T
ENST00000290846.8:c.703C>T	ENSP00000290846.4:p.Gln235Ter
ENST00000381019.3:c.703C>T	ENSP00000370407.3:p.Gln235Ter
ENST00000381021.7:c.*296C>T	ENSP00000370409.3:n.*296C>T
ENST00000441818.5:c.*237C>T	ENSP00000393014.1:n.*237C>T
ENST00000453630.5:c.*241C>T	ENSP00000398488.1:n.*241C>T
ENST00000456595.5:c.*237C>T	ENSP00000413880.1:n.*237C>T
ENST00000457572.5:c.*147C>T	ENSP00000407700.1:n.*147C>T
ENST00000463785.1:n.171C>T
ENST00000479648.1:n.523C>T
ENST00000485175.5:n.663C>T
ENST00000486620.5:n.745C>T
NM_001282782.1:c.361C>T	NP_001269711.1:p.Gln121Ter
NM_001282783.1:c.283C>T	NP_001269712.1:p.Gln95Ter
NM_001282784.1:c.283C>T	NP_001269713.1:p.Gln95Ter
NM_001282785.1:c.703C>T	NP_001269714.1:p.Gln235Ter
NM_018006.4:c.703C>T	NP_060476.2:p.Gln235Ter
NR_104240.1:n.1012C>T
NR_104241.1:n.905C>T
XM_005261678.1:c.307C>T	XP_005261735.1:p.Gln103Ter
XM_005261681.1:c.307C>T	XP_005261738.1:p.Gln103Ter
XM_011530271.1:c.598C>T	XP_011528573.1:p.Gln200Ter
XM_011530272.1:c.703C>T	XP_011528574.1:p.Gln235Ter
XM_011530273.1:c.703C>T	XP_011528575.1:p.Gln235Ter
XM_011530274.1:c.361C>T	XP_011528576.1:p.Gln121Ter
XM_011530275.1:c.307C>T	XP_011528577.1:p.Gln103Ter
XM_011530271.2:c.598C>T	XP_011528573.1:p.Gln200Ter
XM_011530272.2:c.703C>T	XP_011528574.1:p.Gln235Ter
XM_011530273.2:c.703C>T	XP_011528575.1:p.Gln235Ter
XM_011530274.2:c.361C>T	XP_011528576.1:p.Gln121Ter
XM_024452260.1:c.598C>T	XP_024308028.1:p.Gln200Ter
XR_001755261.2:n.749C>T
XR_001755262.2:n.749C>T
NM_018006.5:c.703C>T MANE Select	NP_060476.2:p.Gln235Ter
NM_001282782.2:c.361C>T	NP_001269711.1:p.Gln121Ter
NM_001282783.2:c.283C>T	NP_001269712.1:p.Gln95Ter
NM_001282784.2:c.283C>T	NP_001269713.1:p.Gln95Ter
NM_001282785.2:c.703C>T	NP_001269714.1:p.Gln235Ter
NR_104240.2:n.699C>T
NR_104241.2:n.592C>T