Canonical Allele Identifier: CA210005

Gene: TRMU

Linked Data

• ClinVar Variation Id: 217019
• ClinVar RCV Id: RCV000196798
• dbSNP Id: rs766314948
• ExAC: 22:46748213 T / C
• gnomAD v2: 22-46748213-T-C
• gnomAD v4: 22-46352316-T-C
• MyVariant Identifiers: chr22:g.46748213T>C (hg19) ; chr22:g.46352316T>C (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352316T>C , CM000684.2:g.46352316T>C	GRCh38
NC_000022.10:g.46748213T>C , CM000684.1:g.46748213T>C	GRCh37
NC_000022.9:g.45126877T>C	NCBI36
NG_012173.1:g.21916T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465378.6:n.806T>C
ENST00000642923.1:c.653T>C	ENSP00000494255.1:p.Leu218Pro
ENST00000643137.1:c.653T>C	ENSP00000495331.1:p.Leu218Pro
ENST00000644006.1:c.*202T>C	ENSP00000493778.1:n.*202T>C
ENST00000645026.1:n.809T>C
ENST00000645190.1:c.758T>C MANE Select	ENSP00000496496.1:p.Leu253Pro
ENST00000647301.1:c.*202T>C	ENSP00000496641.1:n.*202T>C
ENST00000290846.8:c.758T>C	ENSP00000290846.4:p.Leu253Pro
ENST00000381019.3:c.758T>C	ENSP00000370407.3:p.Leu253Pro
ENST00000381021.7:c.*351T>C	ENSP00000370409.3:n.*351T>C
ENST00000441818.5:c.*292T>C	ENSP00000393014.1:n.*292T>C
ENST00000453630.5:c.*296T>C	ENSP00000398488.1:n.*296T>C
ENST00000456595.5:c.*292T>C	ENSP00000413880.1:n.*292T>C
ENST00000457572.5:c.*202T>C	ENSP00000407700.1:n.*202T>C
ENST00000463785.1:n.226T>C
ENST00000485175.5:n.718T>C
ENST00000486620.5:n.800T>C
NM_001282782.1:c.416T>C	NP_001269711.1:p.Leu139Pro
NM_001282783.1:c.338T>C	NP_001269712.1:p.Leu113Pro
NM_001282784.1:c.338T>C	NP_001269713.1:p.Leu113Pro
NM_001282785.1:c.758T>C	NP_001269714.1:p.Leu253Pro
NM_018006.4:c.758T>C	NP_060476.2:p.Leu253Pro
NR_104240.1:n.1067T>C
NR_104241.1:n.960T>C
XM_005261678.1:c.362T>C	XP_005261735.1:p.Leu121Pro
XM_005261681.1:c.362T>C	XP_005261738.1:p.Leu121Pro
XM_011530271.1:c.653T>C	XP_011528573.1:p.Leu218Pro
XM_011530272.1:c.758T>C	XP_011528574.1:p.Leu253Pro
XM_011530273.1:c.758T>C	XP_011528575.1:p.Leu253Pro
XM_011530274.1:c.416T>C	XP_011528576.1:p.Leu139Pro
XM_011530275.1:c.362T>C	XP_011528577.1:p.Leu121Pro
XM_011530271.2:c.653T>C	XP_011528573.1:p.Leu218Pro
XM_011530272.2:c.758T>C	XP_011528574.1:p.Leu253Pro
XM_011530273.2:c.758T>C	XP_011528575.1:p.Leu253Pro
XM_011530274.2:c.416T>C	XP_011528576.1:p.Leu139Pro
XM_024452260.1:c.653T>C	XP_024308028.1:p.Leu218Pro
XR_001755261.2:n.804T>C
XR_001755262.2:n.804T>C
NM_018006.5:c.758T>C MANE Select	NP_060476.2:p.Leu253Pro
NM_001282782.2:c.416T>C	NP_001269711.1:p.Leu139Pro
NM_001282783.2:c.338T>C	NP_001269712.1:p.Leu113Pro
NM_001282784.2:c.338T>C	NP_001269713.1:p.Leu113Pro
NM_001282785.2:c.758T>C	NP_001269714.1:p.Leu253Pro
NR_104240.2:n.754T>C
NR_104241.2:n.647T>C