Canonical Allele Identifier: CA381718046

Gene: TOMT LRTOMT LRRC51

Linked Data

• dbSNP Id: rs1945678430
• gnomAD v3: 11-72106145-T-C
• gnomAD v4: 11-72106145-T-C
• MyVariant Identifiers: chr11:g.71817191T>C (hg19) ; chr11:g.72106145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106145T>C , CM000673.2:g.72106145T>C	GRCh38
NC_000011.9:g.71817191T>C , CM000673.1:g.71817191T>C	GRCh37
NC_000011.8:g.71494839T>C	NCBI36
NG_021423.1:g.30810T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.194T>C (TOMT) MANE Select	ENSP00000494667.1:p.Ile65Thr
ENST00000541899.2:c.194T>C (TOMT)	ENSP00000494667.1:p.Ile65Thr
ENST00000643715.1:c.438-2460T>C (LRTOMT)	ENSP00000496019.1:n.438-2460T>C
ENST00000646163.1:c.*12T>C (LRTOMT)	ENSP00000494749.1:n.*12T>C
ENST00000307198.11:c.293T>C (LRRC51)	ENSP00000305742.7:p.Ile98Thr
ENST00000419228.2:c.173T>C (LRRC51)	ENSP00000392233.2:p.Ile58Thr
ENST00000427369.6:c.*12T>C (LRRC51)	ENSP00000409403.2:n.*12T>C
ENST00000435085.5:c.293T>C (LRRC51)	ENSP00000409789.1:p.Ile98Thr
ENST00000439209.5:c.438-2460T>C (LRRC51)	ENSP00000395139.1:n.438-2460T>C
ENST00000541899.1:n.351T>C (LRRC51)
ENST00000544409.5:c.*12T>C (LRRC51)	ENSP00000440969.1:n.*12T>C
NM_001145308.4:c.293T>C (LRTOMT)	NP_001138780.1:p.Ile98Thr
NM_001145309.3:c.293T>C (LRTOMT)	NP_001138781.1:p.Ile98Thr
NM_001145310.3:c.173T>C (LRTOMT)	NP_001138782.1:p.Ile58Thr
XM_011544849.1:c.518T>C (LRTOMT)	XP_011543151.1:p.Ile173Thr
XM_024448401.1:c.518T>C (LRTOMT)	XP_024304169.1:p.Ile173Thr
NM_001145308.5:c.293T>C (LRTOMT)	NP_001138780.1:p.Ile98Thr
NM_001145309.4:c.293T>C (LRTOMT)	NP_001138781.1:p.Ile98Thr
NM_001145310.4:c.173T>C (LRTOMT)	NP_001138782.1:p.Ile58Thr
NM_001393500.1:c.194T>C (TOMT)	NP_001380429.1:p.Ile65Thr
NM_001393500.2:c.194T>C (TOMT) MANE Select	NP_001380429.1:p.Ile65Thr