Canonical Allele Identifier: CA411947271

Gene: TRMU

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46353829G>C , CM000684.2:g.46353829G>C	GRCh38
NC_000022.10:g.46749726G>C , CM000684.1:g.46749726G>C	GRCh37
NC_000022.9:g.45128390G>C	NCBI36
NG_012173.1:g.23429G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018006.5:c.835G>C MANE Select	NP_060476.2:p.Val279Leu
ENST00000645190.1:c.835G>C MANE Select	ENSP00000496496.1:p.Val279Leu
NM_001282782.1:c.493G>C	NP_001269711.1:p.Val165Leu
NM_001282782.2:c.493G>C	NP_001269711.1:p.Val165Leu
NM_001282783.1:c.415G>C	NP_001269712.1:p.Val139Leu
NM_001282783.2:c.415G>C	NP_001269712.1:p.Val139Leu
NM_001282784.1:c.415G>C	NP_001269713.1:p.Val139Leu
NM_001282784.2:c.415G>C	NP_001269713.1:p.Val139Leu
NM_001282785.1:c.835G>C	NP_001269714.1:p.Val279Leu
NM_001282785.2:c.835G>C	NP_001269714.1:p.Val279Leu
NM_018006.4:c.835G>C	NP_060476.2:p.Val279Leu
NR_104240.1:n.1144G>C
NR_104240.2:n.831G>C
NR_104241.1:n.1037G>C
NR_104241.2:n.724G>C
ENST00000290846.8:c.835G>C	ENSP00000290846.4:p.Val279Leu
ENST00000381019.3:c.835G>C	ENSP00000370407.3:p.Val279Leu
ENST00000381021.7:c.*428G>C	ENSP00000370409.3:n.*428G>C
ENST00000441818.5:c.*369G>C	ENSP00000393014.1:n.*369G>C
ENST00000453630.5:c.*373G>C	ENSP00000398488.1:n.*373G>C
ENST00000456595.5:c.*369G>C	ENSP00000413880.1:n.*369G>C
ENST00000457572.5:c.*279G>C	ENSP00000407700.1:n.*279G>C
ENST00000485559.1:n.313G>C
ENST00000491612.1:n.1001G>C
ENST00000642923.1:c.730G>C	ENSP00000494255.1:p.Val244Leu
ENST00000643137.1:c.730G>C	ENSP00000495331.1:p.Val244Leu
ENST00000644006.1:c.*279G>C	ENSP00000493778.1:n.*279G>C
ENST00000645026.1:n.886G>C
ENST00000647301.1:c.*279G>C	ENSP00000496641.1:n.*279G>C
XM_005261678.1:c.439G>C	XP_005261735.1:p.Val147Leu
XM_005261681.1:c.439G>C	XP_005261738.1:p.Val147Leu
XM_011530271.1:c.730G>C	XP_011528573.1:p.Val244Leu
XM_011530271.2:c.730G>C	XP_011528573.1:p.Val244Leu
XM_011530272.1:c.772+1499G>C	XP_011528574.1:n.772+1499G>C
XM_011530272.2:c.772+1499G>C	XP_011528574.1:n.772+1499G>C
XM_011530273.1:c.772+1499G>C	XP_011528575.1:n.772+1499G>C
XM_011530273.2:c.772+1499G>C	XP_011528575.1:n.772+1499G>C
XM_011530274.1:c.493G>C	XP_011528576.1:p.Val165Leu
XM_011530274.2:c.493G>C	XP_011528576.1:p.Val165Leu
XM_011530275.1:c.439G>C	XP_011528577.1:p.Val147Leu
XM_024452260.1:c.667+1499G>C	XP_024308028.1:n.667+1499G>C
XR_001755261.2:n.2123G>C
XR_001755262.2:n.2123G>C