Canonical Allele Identifier: CA411946528

Gene: TRMU

Linked Data

• dbSNP Id: rs2078455406
• gnomAD v4: 22-46352312-G-C
• MyVariant Identifiers: chr22:g.46748209G>C (hg19) ; chr22:g.46352312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352312G>C , CM000684.2:g.46352312G>C	GRCh38
NC_000022.10:g.46748209G>C , CM000684.1:g.46748209G>C	GRCh37
NC_000022.9:g.45126873G>C	NCBI36
NG_012173.1:g.21912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.802G>C
ENST00000642923.1:c.649G>C	ENSP00000494255.1:p.Val217Leu
ENST00000643137.1:c.649G>C	ENSP00000495331.1:p.Val217Leu
ENST00000644006.1:c.*198G>C	ENSP00000493778.1:n.*198G>C
ENST00000645026.1:n.805G>C
ENST00000645190.1:c.754G>C MANE Select	ENSP00000496496.1:p.Val252Leu
ENST00000647301.1:c.*198G>C	ENSP00000496641.1:n.*198G>C
ENST00000290846.8:c.754G>C	ENSP00000290846.4:p.Val252Leu
ENST00000381019.3:c.754G>C	ENSP00000370407.3:p.Val252Leu
ENST00000381021.7:c.*347G>C	ENSP00000370409.3:n.*347G>C
ENST00000441818.5:c.*288G>C	ENSP00000393014.1:n.*288G>C
ENST00000453630.5:c.*292G>C	ENSP00000398488.1:n.*292G>C
ENST00000456595.5:c.*288G>C	ENSP00000413880.1:n.*288G>C
ENST00000457572.5:c.*198G>C	ENSP00000407700.1:n.*198G>C
ENST00000463785.1:n.222G>C
ENST00000479648.1:n.574G>C
ENST00000485175.5:n.714G>C
ENST00000486620.5:n.796G>C
NM_001282782.1:c.412G>C	NP_001269711.1:p.Val138Leu
NM_001282783.1:c.334G>C	NP_001269712.1:p.Val112Leu
NM_001282784.1:c.334G>C	NP_001269713.1:p.Val112Leu
NM_001282785.1:c.754G>C	NP_001269714.1:p.Val252Leu
NM_018006.4:c.754G>C	NP_060476.2:p.Val252Leu
NR_104240.1:n.1063G>C
NR_104241.1:n.956G>C
XM_005261678.1:c.358G>C	XP_005261735.1:p.Val120Leu
XM_005261681.1:c.358G>C	XP_005261738.1:p.Val120Leu
XM_011530271.1:c.649G>C	XP_011528573.1:p.Val217Leu
XM_011530272.1:c.754G>C	XP_011528574.1:p.Val252Leu
XM_011530273.1:c.754G>C	XP_011528575.1:p.Val252Leu
XM_011530274.1:c.412G>C	XP_011528576.1:p.Val138Leu
XM_011530275.1:c.358G>C	XP_011528577.1:p.Val120Leu
XM_011530271.2:c.649G>C	XP_011528573.1:p.Val217Leu
XM_011530272.2:c.754G>C	XP_011528574.1:p.Val252Leu
XM_011530273.2:c.754G>C	XP_011528575.1:p.Val252Leu
XM_011530274.2:c.412G>C	XP_011528576.1:p.Val138Leu
XM_024452260.1:c.649G>C	XP_024308028.1:p.Val217Leu
XR_001755261.2:n.800G>C
XR_001755262.2:n.800G>C
NM_018006.5:c.754G>C MANE Select	NP_060476.2:p.Val252Leu
NM_001282782.2:c.412G>C	NP_001269711.1:p.Val138Leu
NM_001282783.2:c.334G>C	NP_001269712.1:p.Val112Leu
NM_001282784.2:c.334G>C	NP_001269713.1:p.Val112Leu
NM_001282785.2:c.754G>C	NP_001269714.1:p.Val252Leu
NR_104240.2:n.750G>C
NR_104241.2:n.643G>C