Canonical Allele Identifier: CA381717620

Gene: TOMT LRTOMT LRRC51

Linked Data

• gnomAD v4: 11-72106070-T-C
• MyVariant Identifiers: chr11:g.71817116T>C (hg19) ; chr11:g.72106070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106070T>C , CM000673.2:g.72106070T>C	GRCh38
NC_000011.9:g.71817116T>C , CM000673.1:g.71817116T>C	GRCh37
NC_000011.8:g.71494764T>C	NCBI36
NG_021423.1:g.30735T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000541899.3:c.119T>C (TOMT) MANE Select	ENSP00000494667.1:p.Leu40Pro
ENST00000541899.2:c.119T>C (TOMT)	ENSP00000494667.1:p.Leu40Pro
ENST00000643715.1:c.438-2535T>C (LRTOMT)	ENSP00000496019.1:n.438-2535T>C
ENST00000646163.1:c.87T>C (LRTOMT)	ENSP00000494749.1:p.Pro29=
ENST00000307198.11:c.218T>C (LRRC51)	ENSP00000305742.7:p.Leu73Pro
ENST00000419228.2:c.98T>C (LRRC51)	ENSP00000392233.2:p.Leu33Pro
ENST00000427369.6:c.621T>C (LRRC51)	ENSP00000409403.2:p.Pro207=
ENST00000435085.5:c.218T>C (LRRC51)	ENSP00000409789.1:p.Leu73Pro
ENST00000439209.5:c.438-2535T>C (LRRC51)	ENSP00000395139.1:n.438-2535T>C
ENST00000541899.1:n.276T>C (LRRC51)
ENST00000544409.5:c.501T>C (LRRC51)	ENSP00000440969.1:p.Pro167=
NM_001145308.4:c.218T>C (LRTOMT)	NP_001138780.1:p.Leu73Pro
NM_001145309.3:c.218T>C (LRTOMT)	NP_001138781.1:p.Leu73Pro
NM_001145310.3:c.98T>C (LRTOMT)	NP_001138782.1:p.Leu33Pro
XM_011544849.1:c.443T>C (LRTOMT)	XP_011543151.1:p.Leu148Pro
XM_024448401.1:c.443T>C (LRTOMT)	XP_024304169.1:p.Leu148Pro
NM_001145308.5:c.218T>C (LRTOMT)	NP_001138780.1:p.Leu73Pro
NM_001145309.4:c.218T>C (LRTOMT)	NP_001138781.1:p.Leu73Pro
NM_001145310.4:c.98T>C (LRTOMT)	NP_001138782.1:p.Leu33Pro
NM_001393500.1:c.119T>C (TOMT)	NP_001380429.1:p.Leu40Pro
NM_001393500.2:c.119T>C (TOMT) MANE Select	NP_001380429.1:p.Leu40Pro