Canonical Allele Identifier: CA514925563

Gene: TRMU

Linked Data

• dbSNP Id: rs1468143282
• gnomAD v2: 22-46748164-C-T
• gnomAD v4: 22-46352267-C-T
• MyVariant Identifiers: chr22:g.46748164C>T (hg19) ; chr22:g.46352267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352267C>T , CM000684.2:g.46352267C>T	GRCh38
NC_000022.10:g.46748164C>T , CM000684.1:g.46748164C>T	GRCh37
NC_000022.9:g.45126828C>T	NCBI36
NG_012173.1:g.21867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.757C>T
ENST00000642923.1:c.604C>T	ENSP00000494255.1:p.Leu202=
ENST00000643137.1:c.604C>T	ENSP00000495331.1:p.Leu202=
ENST00000644006.1:c.*153C>T	ENSP00000493778.1:n.*153C>T
ENST00000645026.1:n.760C>T
ENST00000645190.1:c.709C>T MANE Select	ENSP00000496496.1:p.Leu237=
ENST00000647301.1:c.*153C>T	ENSP00000496641.1:n.*153C>T
ENST00000290846.8:c.709C>T	ENSP00000290846.4:p.Leu237=
ENST00000381019.3:c.709C>T	ENSP00000370407.3:p.Leu237=
ENST00000381021.7:c.*302C>T	ENSP00000370409.3:n.*302C>T
ENST00000441818.5:c.*243C>T	ENSP00000393014.1:n.*243C>T
ENST00000453630.5:c.*247C>T	ENSP00000398488.1:n.*247C>T
ENST00000456595.5:c.*243C>T	ENSP00000413880.1:n.*243C>T
ENST00000457572.5:c.*153C>T	ENSP00000407700.1:n.*153C>T
ENST00000463785.1:n.177C>T
ENST00000479648.1:n.529C>T
ENST00000485175.5:n.669C>T
ENST00000486620.5:n.751C>T
NM_001282782.1:c.367C>T	NP_001269711.1:p.Leu123=
NM_001282783.1:c.289C>T	NP_001269712.1:p.Leu97=
NM_001282784.1:c.289C>T	NP_001269713.1:p.Leu97=
NM_001282785.1:c.709C>T	NP_001269714.1:p.Leu237=
NM_018006.4:c.709C>T	NP_060476.2:p.Leu237=
NR_104240.1:n.1018C>T
NR_104241.1:n.911C>T
XM_005261678.1:c.313C>T	XP_005261735.1:p.Leu105=
XM_005261681.1:c.313C>T	XP_005261738.1:p.Leu105=
XM_011530271.1:c.604C>T	XP_011528573.1:p.Leu202=
XM_011530272.1:c.709C>T	XP_011528574.1:p.Leu237=
XM_011530273.1:c.709C>T	XP_011528575.1:p.Leu237=
XM_011530274.1:c.367C>T	XP_011528576.1:p.Leu123=
XM_011530275.1:c.313C>T	XP_011528577.1:p.Leu105=
XM_011530271.2:c.604C>T	XP_011528573.1:p.Leu202=
XM_011530272.2:c.709C>T	XP_011528574.1:p.Leu237=
XM_011530273.2:c.709C>T	XP_011528575.1:p.Leu237=
XM_011530274.2:c.367C>T	XP_011528576.1:p.Leu123=
XM_024452260.1:c.604C>T	XP_024308028.1:p.Leu202=
XR_001755261.2:n.755C>T
XR_001755262.2:n.755C>T
NM_018006.5:c.709C>T MANE Select	NP_060476.2:p.Leu237=
NM_001282782.2:c.367C>T	NP_001269711.1:p.Leu123=
NM_001282783.2:c.289C>T	NP_001269712.1:p.Leu97=
NM_001282784.2:c.289C>T	NP_001269713.1:p.Leu97=
NM_001282785.2:c.709C>T	NP_001269714.1:p.Leu237=
NR_104240.2:n.705C>T
NR_104241.2:n.598C>T