Canonical Allele Identifier: CA273655

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 179792
• ClinVar RCV Id: RCV000156590 ; RCV000211724
• dbSNP Id: rs545947177
• ExAC: 11:71817260 A / C
• gnomAD v2: 11-71817260-A-C
• gnomAD v3: 11-72106214-A-C
• gnomAD v4: 11-72106214-A-C
• MyVariant Identifiers: chr11:g.71817260A>C (hg19) ; chr11:g.72106214A>C (hg38)
• PubMed: PMID:17211611 ; PMID:18953341

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106214A>C , CM000673.2:g.72106214A>C	GRCh38
NC_000011.9:g.71817260A>C , CM000673.1:g.71817260A>C	GRCh37
NC_000011.8:g.71494908A>C	NCBI36
NG_021423.1:g.30879A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000541899.3:c.259+4A>C (TOMT) MANE Select	ENSP00000494667.1:n.259+4A>C
ENST00000541899.2:c.259+4A>C (TOMT)	ENSP00000494667.1:n.259+4A>C
ENST00000643715.1:c.438-2391A>C (LRTOMT)	ENSP00000496019.1:n.438-2391A>C
ENST00000646163.1:c.*77+4A>C (LRTOMT)	ENSP00000494749.1:n.*77+4A>C
ENST00000307198.11:c.358+4A>C (LRRC51)	ENSP00000305742.7:n.358+4A>C
ENST00000419228.2:c.238+4A>C (LRRC51)	ENSP00000392233.2:n.238+4A>C
ENST00000427369.6:c.*77+4A>C (LRRC51)	ENSP00000409403.2:n.*77+4A>C
ENST00000435085.5:c.358+4A>C (LRRC51)	ENSP00000409789.1:n.358+4A>C
ENST00000439209.5:c.438-2391A>C (LRRC51)	ENSP00000395139.1:n.438-2391A>C
ENST00000541899.1:n.416+4A>C (LRRC51)
ENST00000544409.5:c.*77+4A>C (LRRC51)	ENSP00000440969.1:n.*77+4A>C
NM_001145308.4:c.358+4A>C (LRTOMT)	NP_001138780.1:n.358+4A>C
NM_001145309.3:c.358+4A>C (LRTOMT)	NP_001138781.1:n.358+4A>C
NM_001145310.3:c.238+4A>C (LRTOMT)	NP_001138782.1:n.238+4A>C
XM_011544849.1:c.583+4A>C (LRTOMT)	XP_011543151.1:n.583+4A>C
XM_024448401.1:c.583+4A>C (LRTOMT)	XP_024304169.1:n.583+4A>C
NM_001145308.5:c.358+4A>C (LRTOMT)	NP_001138780.1:n.358+4A>C
NM_001145309.4:c.358+4A>C (LRTOMT)	NP_001138781.1:n.358+4A>C
NM_001145310.4:c.238+4A>C (LRTOMT)	NP_001138782.1:n.238+4A>C
NM_001393500.1:c.259+4A>C (TOMT)	NP_001380429.1:n.259+4A>C
NM_001393500.2:c.259+4A>C (TOMT) MANE Select	NP_001380429.1:n.259+4A>C