Canonical Allele Identifier: CA16608640
Gene: TRMU HGNC NCBI

Linked Data

ClinVar Variation Id: 393172
ClinVar RCV Id: RCV000424646
dbSNP Id: rs1057524822

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46337942C>G , CM000684.2:g.46337942C>G GRCh38
NC_000022.10:g.46733839C>G , CM000684.1:g.46733839C>G GRCh37
NC_000022.9:g.45112503C>G NCBI36
NG_012173.1:g.7542C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000465378.6:n.349C>G
ENST00000493556.2:n.322C>G
ENST00000642562.1:c.82+2096C>G ENSP00000494679.1:n.82+2096C>G
ENST00000642923.1:c.141C>G ENSP00000494255.1:p.Phe47Leu
ENST00000643137.1:c.141C>G ENSP00000495331.1:p.Phe47Leu
ENST00000644006.1:c.141C>G ENSP00000493778.1:p.Phe47Leu
ENST00000645026.1:n.297C>G
ENST00000645190.1:c.246C>G MANE Select ENSP00000496496.1:p.Phe82Leu
ENST00000647301.1:c.246C>G ENSP00000496641.1:p.Phe82Leu
ENST00000290846.8:c.246C>G ENSP00000290846.4:p.Phe82Leu
ENST00000381019.3:c.246C>G ENSP00000370407.3:p.Phe82Leu
ENST00000381021.7:c.246C>G ENSP00000370409.3:p.Phe82Leu
ENST00000441818.5:c.246C>G ENSP00000393014.1:p.Phe82Leu
ENST00000453630.5:c.246C>G ENSP00000398488.1:p.Phe82Leu
ENST00000456595.5:c.246C>G ENSP00000413880.1:p.Phe82Leu
ENST00000457572.5:c.246C>G ENSP00000407700.1:p.Phe82Leu
ENST00000465378.5:n.378C>G
ENST00000485175.5:n.313C>G
ENST00000486620.5:n.450C>G
ENST00000496831.5:n.376C>G
NM_001282782.1:c.11C>G NP_001269711.1:p.Ser4Ter
NM_001282783.1:c.-9C>G NP_001269712.1:n.-9C>G
NM_001282784.1:c.-9C>G NP_001269713.1:n.-9C>G
NM_001282785.1:c.246C>G NP_001269714.1:p.Phe82Leu
NM_018006.4:c.246C>G NP_060476.2:p.Phe82Leu
NR_104240.1:n.610C>G
NR_104241.1:n.610C>G
XM_005261678.1:c.-92C>G XP_005261735.1:n.-92C>G
XM_005261681.1:c.-92C>G XP_005261738.1:n.-92C>G
XM_011530271.1:c.141C>G XP_011528573.1:p.Phe47Leu
XM_011530272.1:c.246C>G XP_011528574.1:p.Phe82Leu
XM_011530273.1:c.246C>G XP_011528575.1:p.Phe82Leu
XM_011530274.1:c.11C>G XP_011528576.1:p.Ser4Ter
XM_011530275.1:c.-92C>G XP_011528577.1:n.-92C>G
XM_011530271.2:c.141C>G XP_011528573.1:p.Phe47Leu
XM_011530272.2:c.246C>G XP_011528574.1:p.Phe82Leu
XM_011530273.2:c.246C>G XP_011528575.1:p.Phe82Leu
XM_011530274.2:c.11C>G XP_011528576.1:p.Ser4Ter
XM_024452260.1:c.141C>G XP_024308028.1:p.Phe47Leu
XR_001755261.2:n.292C>G
XR_001755262.2:n.292C>G
NM_018006.5:c.246C>G MANE Select NP_060476.2:p.Phe82Leu
NM_001282782.2:c.11C>G NP_001269711.1:p.Ser4Ter
NM_001282783.2:c.-9C>G NP_001269712.1:n.-9C>G
NM_001282784.2:c.-9C>G NP_001269713.1:n.-9C>G
NM_001282785.2:c.246C>G NP_001269714.1:p.Phe82Leu
NR_104240.2:n.297C>G
NR_104241.2:n.297C>G