Canonical Allele Identifier: CA514925566

Gene: TRMU

Linked Data

• MyVariant Identifiers: chr22:g.46748166G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352269G>T , CM000684.2:g.46352269G>T	GRCh38
NC_000022.10:g.46748166G>T , CM000684.1:g.46748166G>T	GRCh37
NC_000022.9:g.45126830G>T	NCBI36
NG_012173.1:g.21869G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.759G>T
ENST00000642923.1:c.606G>T	ENSP00000494255.1:p.Leu202=
ENST00000643137.1:c.606G>T	ENSP00000495331.1:p.Leu202=
ENST00000644006.1:c.*155G>T	ENSP00000493778.1:n.*155G>T
ENST00000645026.1:n.762G>T
ENST00000645190.1:c.711G>T MANE Select	ENSP00000496496.1:p.Leu237=
ENST00000647301.1:c.*155G>T	ENSP00000496641.1:n.*155G>T
ENST00000290846.8:c.711G>T	ENSP00000290846.4:p.Leu237=
ENST00000381019.3:c.711G>T	ENSP00000370407.3:p.Leu237=
ENST00000381021.7:c.*304G>T	ENSP00000370409.3:n.*304G>T
ENST00000441818.5:c.*245G>T	ENSP00000393014.1:n.*245G>T
ENST00000453630.5:c.*249G>T	ENSP00000398488.1:n.*249G>T
ENST00000456595.5:c.*245G>T	ENSP00000413880.1:n.*245G>T
ENST00000457572.5:c.*155G>T	ENSP00000407700.1:n.*155G>T
ENST00000463785.1:n.179G>T
ENST00000479648.1:n.531G>T
ENST00000485175.5:n.671G>T
ENST00000486620.5:n.753G>T
NM_001282782.1:c.369G>T	NP_001269711.1:p.Leu123=
NM_001282783.1:c.291G>T	NP_001269712.1:p.Leu97=
NM_001282784.1:c.291G>T	NP_001269713.1:p.Leu97=
NM_001282785.1:c.711G>T	NP_001269714.1:p.Leu237=
NM_018006.4:c.711G>T	NP_060476.2:p.Leu237=
NR_104240.1:n.1020G>T
NR_104241.1:n.913G>T
XM_005261678.1:c.315G>T	XP_005261735.1:p.Leu105=
XM_005261681.1:c.315G>T	XP_005261738.1:p.Leu105=
XM_011530271.1:c.606G>T	XP_011528573.1:p.Leu202=
XM_011530272.1:c.711G>T	XP_011528574.1:p.Leu237=
XM_011530273.1:c.711G>T	XP_011528575.1:p.Leu237=
XM_011530274.1:c.369G>T	XP_011528576.1:p.Leu123=
XM_011530275.1:c.315G>T	XP_011528577.1:p.Leu105=
XM_011530271.2:c.606G>T	XP_011528573.1:p.Leu202=
XM_011530272.2:c.711G>T	XP_011528574.1:p.Leu237=
XM_011530273.2:c.711G>T	XP_011528575.1:p.Leu237=
XM_011530274.2:c.369G>T	XP_011528576.1:p.Leu123=
XM_024452260.1:c.606G>T	XP_024308028.1:p.Leu202=
XR_001755261.2:n.757G>T
XR_001755262.2:n.757G>T
NM_018006.5:c.711G>T MANE Select	NP_060476.2:p.Leu237=
NM_001282782.2:c.369G>T	NP_001269711.1:p.Leu123=
NM_001282783.2:c.291G>T	NP_001269712.1:p.Leu97=
NM_001282784.2:c.291G>T	NP_001269713.1:p.Leu97=
NM_001282785.2:c.711G>T	NP_001269714.1:p.Leu237=
NR_104240.2:n.707G>T
NR_104241.2:n.600G>T