Canonical Allele Identifier: CA10292159

Gene: TRMU

Linked Data

• dbSNP Id: rs773978060
• ExAC: 22:46748030 T / G
• gnomAD v2: 22-46748030-T-G
• gnomAD v4: 22-46352133-T-G
• MyVariant Identifiers: chr22:g.46748030T>G (hg19) ; chr22:g.46352133T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352133T>G , CM000684.2:g.46352133T>G	GRCh38
NC_000022.10:g.46748030T>G , CM000684.1:g.46748030T>G	GRCh37
NC_000022.9:g.45126694T>G	NCBI36
NG_012173.1:g.21733T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.712T>G
ENST00000642923.1:c.559T>G	ENSP00000494255.1:p.Cys187Gly
ENST00000643137.1:c.559T>G	ENSP00000495331.1:p.Cys187Gly
ENST00000644006.1:c.*108T>G	ENSP00000493778.1:n.*108T>G
ENST00000645026.1:n.715T>G
ENST00000645190.1:c.664T>G MANE Select	ENSP00000496496.1:p.Cys222Gly
ENST00000647301.1:c.*108T>G	ENSP00000496641.1:n.*108T>G
ENST00000290846.8:c.664T>G	ENSP00000290846.4:p.Cys222Gly
ENST00000381019.3:c.664T>G	ENSP00000370407.3:p.Cys222Gly
ENST00000381021.7:c.*257T>G	ENSP00000370409.3:n.*257T>G
ENST00000441818.5:c.*198T>G	ENSP00000393014.1:n.*198T>G
ENST00000453630.5:c.*202T>G	ENSP00000398488.1:n.*202T>G
ENST00000456595.5:c.*198T>G	ENSP00000413880.1:n.*198T>G
ENST00000457572.5:c.*108T>G	ENSP00000407700.1:n.*108T>G
ENST00000463785.1:n.132T>G
ENST00000479648.1:n.484T>G
ENST00000485175.5:n.624T>G
ENST00000486620.5:n.706T>G
NM_001282782.1:c.322T>G	NP_001269711.1:p.Cys108Gly
NM_001282783.1:c.244T>G	NP_001269712.1:p.Cys82Gly
NM_001282784.1:c.244T>G	NP_001269713.1:p.Cys82Gly
NM_001282785.1:c.664T>G	NP_001269714.1:p.Cys222Gly
NM_018006.4:c.664T>G	NP_060476.2:p.Cys222Gly
NR_104240.1:n.973T>G
NR_104241.1:n.866T>G
XM_005261678.1:c.268T>G	XP_005261735.1:p.Cys90Gly
XM_005261681.1:c.268T>G	XP_005261738.1:p.Cys90Gly
XM_011530271.1:c.559T>G	XP_011528573.1:p.Cys187Gly
XM_011530272.1:c.664T>G	XP_011528574.1:p.Cys222Gly
XM_011530273.1:c.664T>G	XP_011528575.1:p.Cys222Gly
XM_011530274.1:c.322T>G	XP_011528576.1:p.Cys108Gly
XM_011530275.1:c.268T>G	XP_011528577.1:p.Cys90Gly
XM_011530271.2:c.559T>G	XP_011528573.1:p.Cys187Gly
XM_011530272.2:c.664T>G	XP_011528574.1:p.Cys222Gly
XM_011530273.2:c.664T>G	XP_011528575.1:p.Cys222Gly
XM_011530274.2:c.322T>G	XP_011528576.1:p.Cys108Gly
XM_024452260.1:c.559T>G	XP_024308028.1:p.Cys187Gly
XR_001755261.2:n.710T>G
XR_001755262.2:n.710T>G
NM_018006.5:c.664T>G MANE Select	NP_060476.2:p.Cys222Gly
NM_001282782.2:c.322T>G	NP_001269711.1:p.Cys108Gly
NM_001282783.2:c.244T>G	NP_001269712.1:p.Cys82Gly
NM_001282784.2:c.244T>G	NP_001269713.1:p.Cys82Gly
NM_001282785.2:c.664T>G	NP_001269714.1:p.Cys222Gly
NR_104240.2:n.660T>G
NR_104241.2:n.553T>G