Canonical Allele Identifier: CA411946116

Gene: TRMU

Linked Data

• gnomAD v4: 22-46352126-G-A
• MyVariant Identifiers: chr22:g.46748023G>A (hg19) ; chr22:g.46352126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352126G>A , CM000684.2:g.46352126G>A	GRCh38
NC_000022.10:g.46748023G>A , CM000684.1:g.46748023G>A	GRCh37
NC_000022.9:g.45126687G>A	NCBI36
NG_012173.1:g.21726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.705G>A
ENST00000642923.1:c.552G>A	ENSP00000494255.1:p.Met184Ile
ENST00000643137.1:c.552G>A	ENSP00000495331.1:p.Met184Ile
ENST00000644006.1:c.*101G>A	ENSP00000493778.1:n.*101G>A
ENST00000645026.1:n.708G>A
ENST00000645190.1:c.657G>A MANE Select	ENSP00000496496.1:p.Met219Ile
ENST00000647301.1:c.*101G>A	ENSP00000496641.1:n.*101G>A
ENST00000290846.8:c.657G>A	ENSP00000290846.4:p.Met219Ile
ENST00000381019.3:c.657G>A	ENSP00000370407.3:p.Met219Ile
ENST00000381021.7:c.*250G>A	ENSP00000370409.3:n.*250G>A
ENST00000441818.5:c.*191G>A	ENSP00000393014.1:n.*191G>A
ENST00000453630.5:c.*195G>A	ENSP00000398488.1:n.*195G>A
ENST00000456595.5:c.*191G>A	ENSP00000413880.1:n.*191G>A
ENST00000457572.5:c.*101G>A	ENSP00000407700.1:n.*101G>A
ENST00000463785.1:n.125G>A
ENST00000479648.1:n.477G>A
ENST00000485175.5:n.617G>A
ENST00000486620.5:n.699G>A
NM_001282782.1:c.315G>A	NP_001269711.1:p.Met105Ile
NM_001282783.1:c.237G>A	NP_001269712.1:p.Met79Ile
NM_001282784.1:c.237G>A	NP_001269713.1:p.Met79Ile
NM_001282785.1:c.657G>A	NP_001269714.1:p.Met219Ile
NM_018006.4:c.657G>A	NP_060476.2:p.Met219Ile
NR_104240.1:n.966G>A
NR_104241.1:n.859G>A
XM_005261678.1:c.261G>A	XP_005261735.1:p.Met87Ile
XM_005261681.1:c.261G>A	XP_005261738.1:p.Met87Ile
XM_011530271.1:c.552G>A	XP_011528573.1:p.Met184Ile
XM_011530272.1:c.657G>A	XP_011528574.1:p.Met219Ile
XM_011530273.1:c.657G>A	XP_011528575.1:p.Met219Ile
XM_011530274.1:c.315G>A	XP_011528576.1:p.Met105Ile
XM_011530275.1:c.261G>A	XP_011528577.1:p.Met87Ile
XM_011530271.2:c.552G>A	XP_011528573.1:p.Met184Ile
XM_011530272.2:c.657G>A	XP_011528574.1:p.Met219Ile
XM_011530273.2:c.657G>A	XP_011528575.1:p.Met219Ile
XM_011530274.2:c.315G>A	XP_011528576.1:p.Met105Ile
XM_024452260.1:c.552G>A	XP_024308028.1:p.Met184Ile
XR_001755261.2:n.703G>A
XR_001755262.2:n.703G>A
NM_018006.5:c.657G>A MANE Select	NP_060476.2:p.Met219Ile
NM_001282782.2:c.315G>A	NP_001269711.1:p.Met105Ile
NM_001282783.2:c.237G>A	NP_001269712.1:p.Met79Ile
NM_001282784.2:c.237G>A	NP_001269713.1:p.Met79Ile
NM_001282785.2:c.657G>A	NP_001269714.1:p.Met219Ile
NR_104240.2:n.653G>A
NR_104241.2:n.546G>A