Canonical Allele Identifier: CA176672

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 163941
• ClinVar RCV Id: RCV000150998
• dbSNP Id: rs727503152
• MyVariant Identifiers: chr11:g.71817063C>G (hg19) ; chr11:g.72106017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106017C>G , CM000673.2:g.72106017C>G	GRCh38
NC_000011.9:g.71817063C>G , CM000673.1:g.71817063C>G	GRCh37
NC_000011.8:g.71494711C>G	NCBI36
NG_021423.1:g.30682C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.66C>G (TOMT) MANE Select	ENSP00000494667.1:p.His22Gln
ENST00000541899.2:c.66C>G (TOMT)	ENSP00000494667.1:p.His22Gln
ENST00000643715.1:c.438-2588C>G (LRTOMT)	ENSP00000496019.1:n.438-2588C>G
ENST00000646163.1:c.73-39C>G (LRTOMT)	ENSP00000494749.1:n.73-39C>G
ENST00000307198.11:c.165C>G (LRRC51)	ENSP00000305742.7:p.His55Gln
ENST00000419228.2:c.84-39C>G (LRRC51)	ENSP00000392233.2:n.84-39C>G
ENST00000427369.6:c.568C>G (LRRC51)	ENSP00000409403.2:p.Leu190Val
ENST00000435085.5:c.165C>G (LRRC51)	ENSP00000409789.1:p.His55Gln
ENST00000439209.5:c.438-2588C>G (LRRC51)	ENSP00000395139.1:n.438-2588C>G
ENST00000541899.1:n.223C>G (LRRC51)
ENST00000544409.5:c.487-39C>G (LRRC51)	ENSP00000440969.1:n.487-39C>G
NM_001145308.4:c.165C>G (LRTOMT)	NP_001138780.1:p.His55Gln
NM_001145309.3:c.165C>G (LRTOMT)	NP_001138781.1:p.His55Gln
NM_001145310.3:c.84-39C>G (LRTOMT)	NP_001138782.1:n.84-39C>G
XM_011544849.1:c.390C>G (LRTOMT)	XP_011543151.1:p.His130Gln
XM_024448401.1:c.390C>G (LRTOMT)	XP_024304169.1:p.His130Gln
NM_001145308.5:c.165C>G (LRTOMT)	NP_001138780.1:p.His55Gln
NM_001145309.4:c.165C>G (LRTOMT)	NP_001138781.1:p.His55Gln
NM_001145310.4:c.84-39C>G (LRTOMT)	NP_001138782.1:n.84-39C>G
NM_001393500.1:c.66C>G (TOMT)	NP_001380429.1:p.His22Gln
NM_001393500.2:c.66C>G (TOMT) MANE Select	NP_001380429.1:p.His22Gln