Canonical Allele Identifier: CA10292148

Gene: TRMU

Linked Data

• ClinVar Variation Id: 2832041
• ClinVar RCV Id: RCV003686909
• dbSNP Id: rs764522973
• ExAC: 22:46747998 C / T
• gnomAD v2: 22-46747998-C-T
• gnomAD v4: 22-46352101-C-T
• MyVariant Identifiers: chr22:g.46747998C>T (hg19) ; chr22:g.46352101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352101C>T , CM000684.2:g.46352101C>T	GRCh38
NC_000022.10:g.46747998C>T , CM000684.1:g.46747998C>T	GRCh37
NC_000022.9:g.45126662C>T	NCBI36
NG_012173.1:g.21701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.700-20C>T
ENST00000642923.1:c.547-20C>T	ENSP00000494255.1:n.547-20C>T
ENST00000643137.1:c.547-20C>T	ENSP00000495331.1:n.547-20C>T
ENST00000644006.1:c.*96-20C>T	ENSP00000493778.1:n.*96-20C>T
ENST00000645026.1:n.703-20C>T
ENST00000645190.1:c.652-20C>T MANE Select	ENSP00000496496.1:n.652-20C>T
ENST00000647301.1:c.*96-20C>T	ENSP00000496641.1:n.*96-20C>T
ENST00000290846.8:c.652-20C>T	ENSP00000290846.4:n.652-20C>T
ENST00000381019.3:c.652-20C>T	ENSP00000370407.3:n.652-20C>T
ENST00000381021.7:c.*245-20C>T	ENSP00000370409.3:n.*245-20C>T
ENST00000441818.5:c.*186-20C>T	ENSP00000393014.1:n.*186-20C>T
ENST00000453630.5:c.*190-20C>T	ENSP00000398488.1:n.*190-20C>T
ENST00000456595.5:c.*186-20C>T	ENSP00000413880.1:n.*186-20C>T
ENST00000457572.5:c.*96-20C>T	ENSP00000407700.1:n.*96-20C>T
ENST00000463785.1:n.120-20C>T
ENST00000479648.1:n.452C>T
ENST00000485175.5:n.612-20C>T
ENST00000486620.5:n.694-20C>T
NM_001282782.1:c.310-20C>T	NP_001269711.1:n.310-20C>T
NM_001282783.1:c.232-20C>T	NP_001269712.1:n.232-20C>T
NM_001282784.1:c.232-20C>T	NP_001269713.1:n.232-20C>T
NM_001282785.1:c.652-20C>T	NP_001269714.1:n.652-20C>T
NM_018006.4:c.652-20C>T	NP_060476.2:n.652-20C>T
NR_104240.1:n.961-20C>T
NR_104241.1:n.854-20C>T
XM_005261678.1:c.256-20C>T	XP_005261735.1:n.256-20C>T
XM_005261681.1:c.256-20C>T	XP_005261738.1:n.256-20C>T
XM_011530271.1:c.547-20C>T	XP_011528573.1:n.547-20C>T
XM_011530272.1:c.652-20C>T	XP_011528574.1:n.652-20C>T
XM_011530273.1:c.652-20C>T	XP_011528575.1:n.652-20C>T
XM_011530274.1:c.310-20C>T	XP_011528576.1:n.310-20C>T
XM_011530275.1:c.256-20C>T	XP_011528577.1:n.256-20C>T
XM_011530271.2:c.547-20C>T	XP_011528573.1:n.547-20C>T
XM_011530272.2:c.652-20C>T	XP_011528574.1:n.652-20C>T
XM_011530273.2:c.652-20C>T	XP_011528575.1:n.652-20C>T
XM_011530274.2:c.310-20C>T	XP_011528576.1:n.310-20C>T
XM_024452260.1:c.547-20C>T	XP_024308028.1:n.547-20C>T
XR_001755261.2:n.698-20C>T
XR_001755262.2:n.698-20C>T
NM_018006.5:c.652-20C>T MANE Select	NP_060476.2:n.652-20C>T
NM_001282782.2:c.310-20C>T	NP_001269711.1:n.310-20C>T
NM_001282783.2:c.232-20C>T	NP_001269712.1:n.232-20C>T
NM_001282784.2:c.232-20C>T	NP_001269713.1:n.232-20C>T
NM_001282785.2:c.652-20C>T	NP_001269714.1:n.652-20C>T
NR_104240.2:n.648-20C>T
NR_104241.2:n.541-20C>T