Canonical Allele Identifier: CA10576896

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 227532
• ClinVar RCV Id: RCV000214832
• dbSNP Id: rs876657500
• gnomAD v2: 11-71817015-A-G
• gnomAD v3: 11-72105969-A-G
• gnomAD v4: 11-72105969-A-G
• MyVariant Identifiers: chr11:g.71817015A>G (hg19) ; chr11:g.72105969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72105969A>G , CM000673.2:g.72105969A>G	GRCh38
NC_000011.9:g.71817015A>G , CM000673.1:g.71817015A>G	GRCh37
NC_000011.8:g.71494663A>G	NCBI36
NG_021423.1:g.30634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.18A>G (TOMT) MANE Select	ENSP00000494667.1:p.Ala6=
ENST00000541899.2:c.18A>G (TOMT)	ENSP00000494667.1:p.Ala6=
ENST00000643715.1:c.438-2636A>G (LRTOMT)	ENSP00000496019.1:n.438-2636A>G
ENST00000646163.1:c.73-87A>G (LRTOMT)	ENSP00000494749.1:n.73-87A>G
ENST00000307198.11:c.117A>G (LRRC51)	ENSP00000305742.7:p.Ala39=
ENST00000419228.2:c.84-87A>G (LRRC51)	ENSP00000392233.2:n.84-87A>G
ENST00000427369.6:c.520A>G (LRRC51)	ENSP00000409403.2:p.Ile174Val
ENST00000435085.5:c.117A>G (LRRC51)	ENSP00000409789.1:p.Ala39=
ENST00000439209.5:c.438-2636A>G (LRRC51)	ENSP00000395139.1:n.438-2636A>G
ENST00000541899.1:n.175A>G (LRRC51)
ENST00000544409.5:c.487-87A>G (LRRC51)	ENSP00000440969.1:n.487-87A>G
NM_001145308.4:c.117A>G (LRTOMT)	NP_001138780.1:p.Ala39=
NM_001145309.3:c.117A>G (LRTOMT)	NP_001138781.1:p.Ala39=
NM_001145310.3:c.84-87A>G (LRTOMT)	NP_001138782.1:n.84-87A>G
XM_011544849.1:c.342A>G (LRTOMT)	XP_011543151.1:p.Ala114=
XM_024448401.1:c.342A>G (LRTOMT)	XP_024304169.1:p.Ala114=
NM_001145308.5:c.117A>G (LRTOMT)	NP_001138780.1:p.Ala39=
NM_001145309.4:c.117A>G (LRTOMT)	NP_001138781.1:p.Ala39=
NM_001145310.4:c.84-87A>G (LRTOMT)	NP_001138782.1:n.84-87A>G
NM_001393500.1:c.18A>G (TOMT)	NP_001380429.1:p.Ala6=
NM_001393500.2:c.18A>G (TOMT) MANE Select	NP_001380429.1:p.Ala6=