Canonical Allele Identifier: CA514925586
Gene: TRMU HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.46748196A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46352299A>C , CM000684.2:g.46352299A>C GRCh38
NC_000022.10:g.46748196A>C , CM000684.1:g.46748196A>C GRCh37
NC_000022.9:g.45126860A>C NCBI36
NG_012173.1:g.21899A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465378.6:n.789A>C
ENST00000642923.1:c.636A>C ENSP00000494255.1:p.Ile212=
ENST00000643137.1:c.636A>C ENSP00000495331.1:p.Ile212=
ENST00000644006.1:c.*185A>C ENSP00000493778.1:n.*185A>C
ENST00000645026.1:n.792A>C
ENST00000645190.1:c.741A>C MANE Select ENSP00000496496.1:p.Ile247=
ENST00000647301.1:c.*185A>C ENSP00000496641.1:n.*185A>C
ENST00000290846.8:c.741A>C ENSP00000290846.4:p.Ile247=
ENST00000381019.3:c.741A>C ENSP00000370407.3:p.Ile247=
ENST00000381021.7:c.*334A>C ENSP00000370409.3:n.*334A>C
ENST00000441818.5:c.*275A>C ENSP00000393014.1:n.*275A>C
ENST00000453630.5:c.*279A>C ENSP00000398488.1:n.*279A>C
ENST00000456595.5:c.*275A>C ENSP00000413880.1:n.*275A>C
ENST00000457572.5:c.*185A>C ENSP00000407700.1:n.*185A>C
ENST00000463785.1:n.209A>C
ENST00000479648.1:n.561A>C
ENST00000485175.5:n.701A>C
ENST00000486620.5:n.783A>C
NM_001282782.1:c.399A>C NP_001269711.1:p.Ile133=
NM_001282783.1:c.321A>C NP_001269712.1:p.Ile107=
NM_001282784.1:c.321A>C NP_001269713.1:p.Ile107=
NM_001282785.1:c.741A>C NP_001269714.1:p.Ile247=
NM_018006.4:c.741A>C NP_060476.2:p.Ile247=
NR_104240.1:n.1050A>C
NR_104241.1:n.943A>C
XM_005261678.1:c.345A>C XP_005261735.1:p.Ile115=
XM_005261681.1:c.345A>C XP_005261738.1:p.Ile115=
XM_011530271.1:c.636A>C XP_011528573.1:p.Ile212=
XM_011530272.1:c.741A>C XP_011528574.1:p.Ile247=
XM_011530273.1:c.741A>C XP_011528575.1:p.Ile247=
XM_011530274.1:c.399A>C XP_011528576.1:p.Ile133=
XM_011530275.1:c.345A>C XP_011528577.1:p.Ile115=
XM_011530271.2:c.636A>C XP_011528573.1:p.Ile212=
XM_011530272.2:c.741A>C XP_011528574.1:p.Ile247=
XM_011530273.2:c.741A>C XP_011528575.1:p.Ile247=
XM_011530274.2:c.399A>C XP_011528576.1:p.Ile133=
XM_024452260.1:c.636A>C XP_024308028.1:p.Ile212=
XR_001755261.2:n.787A>C
XR_001755262.2:n.787A>C
NM_018006.5:c.741A>C MANE Select NP_060476.2:p.Ile247=
NM_001282782.2:c.399A>C NP_001269711.1:p.Ile133=
NM_001282783.2:c.321A>C NP_001269712.1:p.Ile107=
NM_001282784.2:c.321A>C NP_001269713.1:p.Ile107=
NM_001282785.2:c.741A>C NP_001269714.1:p.Ile247=
NR_104240.2:n.737A>C
NR_104241.2:n.630A>C