Canonical Allele Identifier: CA224374581

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 2683157
• ClinVar RCV Id: RCV003482024
• dbSNP Id: rs999863107
• gnomAD v2: 11-71817221-G-A
• gnomAD v3: 11-72106175-G-A
• gnomAD v4: 11-72106175-G-A
• MyVariant Identifiers: chr11:g.71817221G>A (hg19) ; chr11:g.72106175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106175G>A , CM000673.2:g.72106175G>A	GRCh38
NC_000011.9:g.71817221G>A , CM000673.1:g.71817221G>A	GRCh37
NC_000011.8:g.71494869G>A	NCBI36
NG_021423.1:g.30840G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000541899.3:c.224G>A (TOMT) MANE Select	ENSP00000494667.1:p.Arg75His
ENST00000541899.2:c.224G>A (TOMT)	ENSP00000494667.1:p.Arg75His
ENST00000643715.1:c.438-2430G>A (LRTOMT)	ENSP00000496019.1:n.438-2430G>A
ENST00000646163.1:c.*42G>A (LRTOMT)	ENSP00000494749.1:n.*42G>A
ENST00000307198.11:c.323G>A (LRRC51)	ENSP00000305742.7:p.Arg108His
ENST00000419228.2:c.203G>A (LRRC51)	ENSP00000392233.2:p.Arg68His
ENST00000427369.6:c.*42G>A (LRRC51)	ENSP00000409403.2:n.*42G>A
ENST00000435085.5:c.323G>A (LRRC51)	ENSP00000409789.1:p.Arg108His
ENST00000439209.5:c.438-2430G>A (LRRC51)	ENSP00000395139.1:n.438-2430G>A
ENST00000541899.1:n.381G>A (LRRC51)
ENST00000544409.5:c.*42G>A (LRRC51)	ENSP00000440969.1:n.*42G>A
NM_001145308.4:c.323G>A (LRTOMT)	NP_001138780.1:p.Arg108His
NM_001145309.3:c.323G>A (LRTOMT)	NP_001138781.1:p.Arg108His
NM_001145310.3:c.203G>A (LRTOMT)	NP_001138782.1:p.Arg68His
XM_011544849.1:c.548G>A (LRTOMT)	XP_011543151.1:p.Arg183His
XM_024448401.1:c.548G>A (LRTOMT)	XP_024304169.1:p.Arg183His
NM_001145308.5:c.323G>A (LRTOMT)	NP_001138780.1:p.Arg108His
NM_001145309.4:c.323G>A (LRTOMT)	NP_001138781.1:p.Arg108His
NM_001145310.4:c.203G>A (LRTOMT)	NP_001138782.1:p.Arg68His
NM_001393500.1:c.224G>A (TOMT)	NP_001380429.1:p.Arg75His
NM_001393500.2:c.224G>A (TOMT) MANE Select	NP_001380429.1:p.Arg75His