Canonical Allele Identifier: CA381718136

Gene: TOMT LRTOMT LRRC51

Linked Data

• gnomAD v4: 11-72106160-A-C
• MyVariant Identifiers: chr11:g.71817206A>C (hg19) ; chr11:g.72106160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106160A>C , CM000673.2:g.72106160A>C	GRCh38
NC_000011.9:g.71817206A>C , CM000673.1:g.71817206A>C	GRCh37
NC_000011.8:g.71494854A>C	NCBI36
NG_021423.1:g.30825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.209A>C (TOMT) MANE Select	ENSP00000494667.1:p.Asp70Ala
ENST00000541899.2:c.209A>C (TOMT)	ENSP00000494667.1:p.Asp70Ala
ENST00000643715.1:c.438-2445A>C (LRTOMT)	ENSP00000496019.1:n.438-2445A>C
ENST00000646163.1:c.*27A>C (LRTOMT)	ENSP00000494749.1:n.*27A>C
ENST00000307198.11:c.308A>C (LRRC51)	ENSP00000305742.7:p.Asp103Ala
ENST00000419228.2:c.188A>C (LRRC51)	ENSP00000392233.2:p.Asp63Ala
ENST00000427369.6:c.*27A>C (LRRC51)	ENSP00000409403.2:n.*27A>C
ENST00000435085.5:c.308A>C (LRRC51)	ENSP00000409789.1:p.Asp103Ala
ENST00000439209.5:c.438-2445A>C (LRRC51)	ENSP00000395139.1:n.438-2445A>C
ENST00000541899.1:n.366A>C (LRRC51)
ENST00000544409.5:c.*27A>C (LRRC51)	ENSP00000440969.1:n.*27A>C
NM_001145308.4:c.308A>C (LRTOMT)	NP_001138780.1:p.Asp103Ala
NM_001145309.3:c.308A>C (LRTOMT)	NP_001138781.1:p.Asp103Ala
NM_001145310.3:c.188A>C (LRTOMT)	NP_001138782.1:p.Asp63Ala
XM_011544849.1:c.533A>C (LRTOMT)	XP_011543151.1:p.Asp178Ala
XM_024448401.1:c.533A>C (LRTOMT)	XP_024304169.1:p.Asp178Ala
NM_001145308.5:c.308A>C (LRTOMT)	NP_001138780.1:p.Asp103Ala
NM_001145309.4:c.308A>C (LRTOMT)	NP_001138781.1:p.Asp103Ala
NM_001145310.4:c.188A>C (LRTOMT)	NP_001138782.1:p.Asp63Ala
NM_001393500.1:c.209A>C (TOMT)	NP_001380429.1:p.Asp70Ala
NM_001393500.2:c.209A>C (TOMT) MANE Select	NP_001380429.1:p.Asp70Ala