Canonical Allele Identifier: CA411946335

Gene: TRMU

Linked Data

• gnomAD v4: 22-46352272-G-T
• COSMIC: COSM6423610
• MyVariant Identifiers: chr22:g.46748169G>T (hg19) ; chr22:g.46352272G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352272G>T , CM000684.2:g.46352272G>T	GRCh38
NC_000022.10:g.46748169G>T , CM000684.1:g.46748169G>T	GRCh37
NC_000022.9:g.45126833G>T	NCBI36
NG_012173.1:g.21872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.762G>T
ENST00000642923.1:c.609G>T	ENSP00000494255.1:p.Gln203His
ENST00000643137.1:c.609G>T	ENSP00000495331.1:p.Gln203His
ENST00000644006.1:c.*158G>T	ENSP00000493778.1:n.*158G>T
ENST00000645026.1:n.765G>T
ENST00000645190.1:c.714G>T MANE Select	ENSP00000496496.1:p.Gln238His
ENST00000647301.1:c.*158G>T	ENSP00000496641.1:n.*158G>T
ENST00000290846.8:c.714G>T	ENSP00000290846.4:p.Gln238His
ENST00000381019.3:c.714G>T	ENSP00000370407.3:p.Gln238His
ENST00000381021.7:c.*307G>T	ENSP00000370409.3:n.*307G>T
ENST00000441818.5:c.*248G>T	ENSP00000393014.1:n.*248G>T
ENST00000453630.5:c.*252G>T	ENSP00000398488.1:n.*252G>T
ENST00000456595.5:c.*248G>T	ENSP00000413880.1:n.*248G>T
ENST00000457572.5:c.*158G>T	ENSP00000407700.1:n.*158G>T
ENST00000463785.1:n.182G>T
ENST00000479648.1:n.534G>T
ENST00000485175.5:n.674G>T
ENST00000486620.5:n.756G>T
NM_001282782.1:c.372G>T	NP_001269711.1:p.Gln124His
NM_001282783.1:c.294G>T	NP_001269712.1:p.Gln98His
NM_001282784.1:c.294G>T	NP_001269713.1:p.Gln98His
NM_001282785.1:c.714G>T	NP_001269714.1:p.Gln238His
NM_018006.4:c.714G>T	NP_060476.2:p.Gln238His
NR_104240.1:n.1023G>T
NR_104241.1:n.916G>T
XM_005261678.1:c.318G>T	XP_005261735.1:p.Gln106His
XM_005261681.1:c.318G>T	XP_005261738.1:p.Gln106His
XM_011530271.1:c.609G>T	XP_011528573.1:p.Gln203His
XM_011530272.1:c.714G>T	XP_011528574.1:p.Gln238His
XM_011530273.1:c.714G>T	XP_011528575.1:p.Gln238His
XM_011530274.1:c.372G>T	XP_011528576.1:p.Gln124His
XM_011530275.1:c.318G>T	XP_011528577.1:p.Gln106His
XM_011530271.2:c.609G>T	XP_011528573.1:p.Gln203His
XM_011530272.2:c.714G>T	XP_011528574.1:p.Gln238His
XM_011530273.2:c.714G>T	XP_011528575.1:p.Gln238His
XM_011530274.2:c.372G>T	XP_011528576.1:p.Gln124His
XM_024452260.1:c.609G>T	XP_024308028.1:p.Gln203His
XR_001755261.2:n.760G>T
XR_001755262.2:n.760G>T
NM_018006.5:c.714G>T MANE Select	NP_060476.2:p.Gln238His
NM_001282782.2:c.372G>T	NP_001269711.1:p.Gln124His
NM_001282783.2:c.294G>T	NP_001269712.1:p.Gln98His
NM_001282784.2:c.294G>T	NP_001269713.1:p.Gln98His
NM_001282785.2:c.714G>T	NP_001269714.1:p.Gln238His
NR_104240.2:n.710G>T
NR_104241.2:n.603G>T