Canonical Allele Identifier: CA411946381

Gene: TRMU

Linked Data

• gnomAD v4: 22-46352283-G-T
• MyVariant Identifiers: chr22:g.46748180G>T (hg19) ; chr22:g.46352283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352283G>T , CM000684.2:g.46352283G>T	GRCh38
NC_000022.10:g.46748180G>T , CM000684.1:g.46748180G>T	GRCh37
NC_000022.9:g.45126844G>T	NCBI36
NG_012173.1:g.21883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.773G>T
ENST00000642923.1:c.620G>T	ENSP00000494255.1:p.Gly207Val
ENST00000643137.1:c.620G>T	ENSP00000495331.1:p.Gly207Val
ENST00000644006.1:c.*169G>T	ENSP00000493778.1:n.*169G>T
ENST00000645026.1:n.776G>T
ENST00000645190.1:c.725G>T MANE Select	ENSP00000496496.1:p.Gly242Val
ENST00000647301.1:c.*169G>T	ENSP00000496641.1:n.*169G>T
ENST00000290846.8:c.725G>T	ENSP00000290846.4:p.Gly242Val
ENST00000381019.3:c.725G>T	ENSP00000370407.3:p.Gly242Val
ENST00000381021.7:c.*318G>T	ENSP00000370409.3:n.*318G>T
ENST00000441818.5:c.*259G>T	ENSP00000393014.1:n.*259G>T
ENST00000453630.5:c.*263G>T	ENSP00000398488.1:n.*263G>T
ENST00000456595.5:c.*259G>T	ENSP00000413880.1:n.*259G>T
ENST00000457572.5:c.*169G>T	ENSP00000407700.1:n.*169G>T
ENST00000463785.1:n.193G>T
ENST00000479648.1:n.545G>T
ENST00000485175.5:n.685G>T
ENST00000486620.5:n.767G>T
NM_001282782.1:c.383G>T	NP_001269711.1:p.Gly128Val
NM_001282783.1:c.305G>T	NP_001269712.1:p.Gly102Val
NM_001282784.1:c.305G>T	NP_001269713.1:p.Gly102Val
NM_001282785.1:c.725G>T	NP_001269714.1:p.Gly242Val
NM_018006.4:c.725G>T	NP_060476.2:p.Gly242Val
NR_104240.1:n.1034G>T
NR_104241.1:n.927G>T
XM_005261678.1:c.329G>T	XP_005261735.1:p.Gly110Val
XM_005261681.1:c.329G>T	XP_005261738.1:p.Gly110Val
XM_011530271.1:c.620G>T	XP_011528573.1:p.Gly207Val
XM_011530272.1:c.725G>T	XP_011528574.1:p.Gly242Val
XM_011530273.1:c.725G>T	XP_011528575.1:p.Gly242Val
XM_011530274.1:c.383G>T	XP_011528576.1:p.Gly128Val
XM_011530275.1:c.329G>T	XP_011528577.1:p.Gly110Val
XM_011530271.2:c.620G>T	XP_011528573.1:p.Gly207Val
XM_011530272.2:c.725G>T	XP_011528574.1:p.Gly242Val
XM_011530273.2:c.725G>T	XP_011528575.1:p.Gly242Val
XM_011530274.2:c.383G>T	XP_011528576.1:p.Gly128Val
XM_024452260.1:c.620G>T	XP_024308028.1:p.Gly207Val
XR_001755261.2:n.771G>T
XR_001755262.2:n.771G>T
NM_018006.5:c.725G>T MANE Select	NP_060476.2:p.Gly242Val
NM_001282782.2:c.383G>T	NP_001269711.1:p.Gly128Val
NM_001282783.2:c.305G>T	NP_001269712.1:p.Gly102Val
NM_001282784.2:c.305G>T	NP_001269713.1:p.Gly102Val
NM_001282785.2:c.725G>T	NP_001269714.1:p.Gly242Val
NR_104240.2:n.721G>T
NR_104241.2:n.614G>T