Canonical Allele Identifier: CA514925569
Gene: TRMU HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.46748172T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46352275T>G , CM000684.2:g.46352275T>G GRCh38
NC_000022.10:g.46748172T>G , CM000684.1:g.46748172T>G GRCh37
NC_000022.9:g.45126836T>G NCBI36
NG_012173.1:g.21875T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465378.6:n.765T>G
ENST00000642923.1:c.612T>G ENSP00000494255.1:p.Pro204=
ENST00000643137.1:c.612T>G ENSP00000495331.1:p.Pro204=
ENST00000644006.1:c.*161T>G ENSP00000493778.1:n.*161T>G
ENST00000645026.1:n.768T>G
ENST00000645190.1:c.717T>G MANE Select ENSP00000496496.1:p.Pro239=
ENST00000647301.1:c.*161T>G ENSP00000496641.1:n.*161T>G
ENST00000290846.8:c.717T>G ENSP00000290846.4:p.Pro239=
ENST00000381019.3:c.717T>G ENSP00000370407.3:p.Pro239=
ENST00000381021.7:c.*310T>G ENSP00000370409.3:n.*310T>G
ENST00000441818.5:c.*251T>G ENSP00000393014.1:n.*251T>G
ENST00000453630.5:c.*255T>G ENSP00000398488.1:n.*255T>G
ENST00000456595.5:c.*251T>G ENSP00000413880.1:n.*251T>G
ENST00000457572.5:c.*161T>G ENSP00000407700.1:n.*161T>G
ENST00000463785.1:n.185T>G
ENST00000479648.1:n.537T>G
ENST00000485175.5:n.677T>G
ENST00000486620.5:n.759T>G
NM_001282782.1:c.375T>G NP_001269711.1:p.Pro125=
NM_001282783.1:c.297T>G NP_001269712.1:p.Pro99=
NM_001282784.1:c.297T>G NP_001269713.1:p.Pro99=
NM_001282785.1:c.717T>G NP_001269714.1:p.Pro239=
NM_018006.4:c.717T>G NP_060476.2:p.Pro239=
NR_104240.1:n.1026T>G
NR_104241.1:n.919T>G
XM_005261678.1:c.321T>G XP_005261735.1:p.Pro107=
XM_005261681.1:c.321T>G XP_005261738.1:p.Pro107=
XM_011530271.1:c.612T>G XP_011528573.1:p.Pro204=
XM_011530272.1:c.717T>G XP_011528574.1:p.Pro239=
XM_011530273.1:c.717T>G XP_011528575.1:p.Pro239=
XM_011530274.1:c.375T>G XP_011528576.1:p.Pro125=
XM_011530275.1:c.321T>G XP_011528577.1:p.Pro107=
XM_011530271.2:c.612T>G XP_011528573.1:p.Pro204=
XM_011530272.2:c.717T>G XP_011528574.1:p.Pro239=
XM_011530273.2:c.717T>G XP_011528575.1:p.Pro239=
XM_011530274.2:c.375T>G XP_011528576.1:p.Pro125=
XM_024452260.1:c.612T>G XP_024308028.1:p.Pro204=
XR_001755261.2:n.763T>G
XR_001755262.2:n.763T>G
NM_018006.5:c.717T>G MANE Select NP_060476.2:p.Pro239=
NM_001282782.2:c.375T>G NP_001269711.1:p.Pro125=
NM_001282783.2:c.297T>G NP_001269712.1:p.Pro99=
NM_001282784.2:c.297T>G NP_001269713.1:p.Pro99=
NM_001282785.2:c.717T>G NP_001269714.1:p.Pro239=
NR_104240.2:n.713T>G
NR_104241.2:n.606T>G