Canonical Allele Identifier: CA514925548

Gene: TRMU

Linked Data

• ClinVar Variation Id: 1095562
• ClinVar RCV Id: RCV001416466
• dbSNP Id: rs760970848
• gnomAD v2: 22-46748045-A-C
• gnomAD v4: 22-46352148-A-C
• MyVariant Identifiers: chr22:g.46748045A>C (hg19) ; chr22:g.46352148A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352148A>C , CM000684.2:g.46352148A>C	GRCh38
NC_000022.10:g.46748045A>C , CM000684.1:g.46748045A>C	GRCh37
NC_000022.9:g.45126709A>C	NCBI36
NG_012173.1:g.21748A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.727A>C
ENST00000642923.1:c.574A>C	ENSP00000494255.1:p.Arg192=
ENST00000643137.1:c.574A>C	ENSP00000495331.1:p.Arg192=
ENST00000644006.1:c.*123A>C	ENSP00000493778.1:n.*123A>C
ENST00000645026.1:n.730A>C
ENST00000645190.1:c.679A>C MANE Select	ENSP00000496496.1:p.Arg227=
ENST00000647301.1:c.*123A>C	ENSP00000496641.1:n.*123A>C
ENST00000290846.8:c.679A>C	ENSP00000290846.4:p.Arg227=
ENST00000381019.3:c.679A>C	ENSP00000370407.3:p.Arg227=
ENST00000381021.7:c.*272A>C	ENSP00000370409.3:n.*272A>C
ENST00000441818.5:c.*213A>C	ENSP00000393014.1:n.*213A>C
ENST00000453630.5:c.*217A>C	ENSP00000398488.1:n.*217A>C
ENST00000456595.5:c.*213A>C	ENSP00000413880.1:n.*213A>C
ENST00000457572.5:c.*123A>C	ENSP00000407700.1:n.*123A>C
ENST00000463785.1:n.147A>C
ENST00000479648.1:n.499A>C
ENST00000485175.5:n.639A>C
ENST00000486620.5:n.721A>C
NM_001282782.1:c.337A>C	NP_001269711.1:p.Arg113=
NM_001282783.1:c.259A>C	NP_001269712.1:p.Arg87=
NM_001282784.1:c.259A>C	NP_001269713.1:p.Arg87=
NM_001282785.1:c.679A>C	NP_001269714.1:p.Arg227=
NM_018006.4:c.679A>C	NP_060476.2:p.Arg227=
NR_104240.1:n.988A>C
NR_104241.1:n.881A>C
XM_005261678.1:c.283A>C	XP_005261735.1:p.Arg95=
XM_005261681.1:c.283A>C	XP_005261738.1:p.Arg95=
XM_011530271.1:c.574A>C	XP_011528573.1:p.Arg192=
XM_011530272.1:c.679A>C	XP_011528574.1:p.Arg227=
XM_011530273.1:c.679A>C	XP_011528575.1:p.Arg227=
XM_011530274.1:c.337A>C	XP_011528576.1:p.Arg113=
XM_011530275.1:c.283A>C	XP_011528577.1:p.Arg95=
XM_011530271.2:c.574A>C	XP_011528573.1:p.Arg192=
XM_011530272.2:c.679A>C	XP_011528574.1:p.Arg227=
XM_011530273.2:c.679A>C	XP_011528575.1:p.Arg227=
XM_011530274.2:c.337A>C	XP_011528576.1:p.Arg113=
XM_024452260.1:c.574A>C	XP_024308028.1:p.Arg192=
XR_001755261.2:n.725A>C
XR_001755262.2:n.725A>C
NM_018006.5:c.679A>C MANE Select	NP_060476.2:p.Arg227=
NM_001282782.2:c.337A>C	NP_001269711.1:p.Arg113=
NM_001282783.2:c.259A>C	NP_001269712.1:p.Arg87=
NM_001282784.2:c.259A>C	NP_001269713.1:p.Arg87=
NM_001282785.2:c.679A>C	NP_001269714.1:p.Arg227=
NR_104240.2:n.675A>C
NR_104241.2:n.568A>C