Canonical Allele Identifier: CA251498

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 545
• ClinVar RCV Id: RCV000000575
• dbSNP Id: rs137853187
• ExAC: 11:71817226 G / A
• gnomAD v2: 11-71817226-G-A
• gnomAD v3: 11-72106180-G-A
• gnomAD v4: 11-72106180-G-A
• MyVariant Identifiers: chr11:g.71817226G>A (hg19) ; chr11:g.72106180G>A (hg38)
• PubMed: PMID:18953341

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106180G>A , CM000673.2:g.72106180G>A	GRCh38
NC_000011.9:g.71817226G>A , CM000673.1:g.71817226G>A	GRCh37
NC_000011.8:g.71494874G>A	NCBI36
NG_021423.1:g.30845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.229G>A (TOMT) MANE Select	ENSP00000494667.1:p.Glu77Lys
ENST00000541899.2:c.229G>A (TOMT)	ENSP00000494667.1:p.Glu77Lys
ENST00000643715.1:c.438-2425G>A (LRTOMT)	ENSP00000496019.1:n.438-2425G>A
ENST00000646163.1:c.*47G>A (LRTOMT)	ENSP00000494749.1:n.*47G>A
ENST00000307198.11:c.328G>A (LRRC51)	ENSP00000305742.7:p.Glu110Lys
ENST00000419228.2:c.208G>A (LRRC51)	ENSP00000392233.2:p.Glu70Lys
ENST00000427369.6:c.*47G>A (LRRC51)	ENSP00000409403.2:n.*47G>A
ENST00000435085.5:c.328G>A (LRRC51)	ENSP00000409789.1:p.Glu110Lys
ENST00000439209.5:c.438-2425G>A (LRRC51)	ENSP00000395139.1:n.438-2425G>A
ENST00000541899.1:n.386G>A (LRRC51)
ENST00000544409.5:c.*47G>A (LRRC51)	ENSP00000440969.1:n.*47G>A
NM_001145308.4:c.328G>A (LRTOMT)	NP_001138780.1:p.Glu110Lys
NM_001145309.3:c.328G>A (LRTOMT)	NP_001138781.1:p.Glu110Lys
NM_001145310.3:c.208G>A (LRTOMT)	NP_001138782.1:p.Glu70Lys
XM_011544849.1:c.553G>A (LRTOMT)	XP_011543151.1:p.Glu185Lys
XM_024448401.1:c.553G>A (LRTOMT)	XP_024304169.1:p.Glu185Lys
NM_001145308.5:c.328G>A (LRTOMT)	NP_001138780.1:p.Glu110Lys
NM_001145309.4:c.328G>A (LRTOMT)	NP_001138781.1:p.Glu110Lys
NM_001145310.4:c.208G>A (LRTOMT)	NP_001138782.1:p.Glu70Lys
NM_001393500.1:c.229G>A (TOMT)	NP_001380429.1:p.Glu77Lys
NM_001393500.2:c.229G>A (TOMT) MANE Select	NP_001380429.1:p.Glu77Lys