Canonical Allele Identifier: CA411946205

Gene: TRMU

Linked Data

• MyVariant Identifiers: chr22:g.46748061T>A (hg19) ; chr22:g.46352164T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352164T>A , CM000684.2:g.46352164T>A	GRCh38
NC_000022.10:g.46748061T>A , CM000684.1:g.46748061T>A	GRCh37
NC_000022.9:g.45126725T>A	NCBI36
NG_012173.1:g.21764T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.743T>A
ENST00000642923.1:c.590T>A	ENSP00000494255.1:p.Phe197Tyr
ENST00000643137.1:c.590T>A	ENSP00000495331.1:p.Phe197Tyr
ENST00000644006.1:c.*139T>A	ENSP00000493778.1:n.*139T>A
ENST00000645026.1:n.746T>A
ENST00000645190.1:c.695T>A MANE Select	ENSP00000496496.1:p.Phe232Tyr
ENST00000647301.1:c.*139T>A	ENSP00000496641.1:n.*139T>A
ENST00000290846.8:c.695T>A	ENSP00000290846.4:p.Phe232Tyr
ENST00000381019.3:c.695T>A	ENSP00000370407.3:p.Phe232Tyr
ENST00000381021.7:c.*288T>A	ENSP00000370409.3:n.*288T>A
ENST00000441818.5:c.*229T>A	ENSP00000393014.1:n.*229T>A
ENST00000453630.5:c.*233T>A	ENSP00000398488.1:n.*233T>A
ENST00000456595.5:c.*229T>A	ENSP00000413880.1:n.*229T>A
ENST00000457572.5:c.*139T>A	ENSP00000407700.1:n.*139T>A
ENST00000463785.1:n.163T>A
ENST00000479648.1:n.515T>A
ENST00000485175.5:n.655T>A
ENST00000486620.5:n.737T>A
NM_001282782.1:c.353T>A	NP_001269711.1:p.Phe118Tyr
NM_001282783.1:c.275T>A	NP_001269712.1:p.Phe92Tyr
NM_001282784.1:c.275T>A	NP_001269713.1:p.Phe92Tyr
NM_001282785.1:c.695T>A	NP_001269714.1:p.Phe232Tyr
NM_018006.4:c.695T>A	NP_060476.2:p.Phe232Tyr
NR_104240.1:n.1004T>A
NR_104241.1:n.897T>A
XM_005261678.1:c.299T>A	XP_005261735.1:p.Phe100Tyr
XM_005261681.1:c.299T>A	XP_005261738.1:p.Phe100Tyr
XM_011530271.1:c.590T>A	XP_011528573.1:p.Phe197Tyr
XM_011530272.1:c.695T>A	XP_011528574.1:p.Phe232Tyr
XM_011530273.1:c.695T>A	XP_011528575.1:p.Phe232Tyr
XM_011530274.1:c.353T>A	XP_011528576.1:p.Phe118Tyr
XM_011530275.1:c.299T>A	XP_011528577.1:p.Phe100Tyr
XM_011530271.2:c.590T>A	XP_011528573.1:p.Phe197Tyr
XM_011530272.2:c.695T>A	XP_011528574.1:p.Phe232Tyr
XM_011530273.2:c.695T>A	XP_011528575.1:p.Phe232Tyr
XM_011530274.2:c.353T>A	XP_011528576.1:p.Phe118Tyr
XM_024452260.1:c.590T>A	XP_024308028.1:p.Phe197Tyr
XR_001755261.2:n.741T>A
XR_001755262.2:n.741T>A
NM_018006.5:c.695T>A MANE Select	NP_060476.2:p.Phe232Tyr
NM_001282782.2:c.353T>A	NP_001269711.1:p.Phe118Tyr
NM_001282783.2:c.275T>A	NP_001269712.1:p.Phe92Tyr
NM_001282784.2:c.275T>A	NP_001269713.1:p.Phe92Tyr
NM_001282785.2:c.695T>A	NP_001269714.1:p.Phe232Tyr
NR_104240.2:n.691T>A
NR_104241.2:n.584T>A