Canonical Allele Identifier: CA10292174

Gene: TRMU

Linked Data

• ClinVar Variation Id: 1581404
• ClinVar RCV Id: RCV002097259
• dbSNP Id: rs191928274
• ExAC: 22:46748087 T / C
• gnomAD v2: 22-46748087-T-C
• gnomAD v3: 22-46352190-T-C
• gnomAD v4: 22-46352190-T-C
• MyVariant Identifiers: chr22:g.46748087T>C (hg19) ; chr22:g.46352190T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352190T>C , CM000684.2:g.46352190T>C	GRCh38
NC_000022.10:g.46748087T>C , CM000684.1:g.46748087T>C	GRCh37
NC_000022.9:g.45126751T>C	NCBI36
NG_012173.1:g.21790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.753+16T>C
ENST00000642923.1:c.600+16T>C	ENSP00000494255.1:n.600+16T>C
ENST00000643137.1:c.600+16T>C	ENSP00000495331.1:n.600+16T>C
ENST00000644006.1:c.*149+16T>C	ENSP00000493778.1:n.*149+16T>C
ENST00000645026.1:n.756+16T>C
ENST00000645190.1:c.705+16T>C MANE Select	ENSP00000496496.1:n.705+16T>C
ENST00000647301.1:c.*149+16T>C	ENSP00000496641.1:n.*149+16T>C
ENST00000290846.8:c.705+16T>C	ENSP00000290846.4:n.705+16T>C
ENST00000381019.3:c.705+16T>C	ENSP00000370407.3:n.705+16T>C
ENST00000381021.7:c.*298+16T>C	ENSP00000370409.3:n.*298+16T>C
ENST00000441818.5:c.*239+16T>C	ENSP00000393014.1:n.*239+16T>C
ENST00000453630.5:c.*243+16T>C	ENSP00000398488.1:n.*243+16T>C
ENST00000456595.5:c.*239+16T>C	ENSP00000413880.1:n.*239+16T>C
ENST00000457572.5:c.*149+16T>C	ENSP00000407700.1:n.*149+16T>C
ENST00000463785.1:n.173+16T>C
ENST00000479648.1:n.525+16T>C
ENST00000485175.5:n.665+16T>C
ENST00000486620.5:n.747+16T>C
NM_001282782.1:c.363+16T>C	NP_001269711.1:n.363+16T>C
NM_001282783.1:c.285+16T>C	NP_001269712.1:n.285+16T>C
NM_001282784.1:c.285+16T>C	NP_001269713.1:n.285+16T>C
NM_001282785.1:c.705+16T>C	NP_001269714.1:n.705+16T>C
NM_018006.4:c.705+16T>C	NP_060476.2:n.705+16T>C
NR_104240.1:n.1014+16T>C
NR_104241.1:n.907+16T>C
XM_005261678.1:c.309+16T>C	XP_005261735.1:n.309+16T>C
XM_005261681.1:c.309+16T>C	XP_005261738.1:n.309+16T>C
XM_011530271.1:c.600+16T>C	XP_011528573.1:n.600+16T>C
XM_011530272.1:c.705+16T>C	XP_011528574.1:n.705+16T>C
XM_011530273.1:c.705+16T>C	XP_011528575.1:n.705+16T>C
XM_011530274.1:c.363+16T>C	XP_011528576.1:n.363+16T>C
XM_011530275.1:c.309+16T>C	XP_011528577.1:n.309+16T>C
XM_011530271.2:c.600+16T>C	XP_011528573.1:n.600+16T>C
XM_011530272.2:c.705+16T>C	XP_011528574.1:n.705+16T>C
XM_011530273.2:c.705+16T>C	XP_011528575.1:n.705+16T>C
XM_011530274.2:c.363+16T>C	XP_011528576.1:n.363+16T>C
XM_024452260.1:c.600+16T>C	XP_024308028.1:n.600+16T>C
XR_001755261.2:n.751+16T>C
XR_001755262.2:n.751+16T>C
NM_018006.5:c.705+16T>C MANE Select	NP_060476.2:n.705+16T>C
NM_001282782.2:c.363+16T>C	NP_001269711.1:n.363+16T>C
NM_001282783.2:c.285+16T>C	NP_001269712.1:n.285+16T>C
NM_001282784.2:c.285+16T>C	NP_001269713.1:n.285+16T>C
NM_001282785.2:c.705+16T>C	NP_001269714.1:n.705+16T>C
NR_104240.2:n.701+16T>C
NR_104241.2:n.594+16T>C