Canonical Allele Identifier: CA381717874

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 1706260
• ClinVar RCV Id: RCV002284790
• dbSNP Id: rs1239074836
• gnomAD v2: 11-71817166-G-C
• gnomAD v3: 11-72106120-G-C
• gnomAD v4: 11-72106120-G-C
• MyVariant Identifiers: chr11:g.71817166G>C (hg19) ; chr11:g.72106120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106120G>C , CM000673.2:g.72106120G>C	GRCh38
NC_000011.9:g.71817166G>C , CM000673.1:g.71817166G>C	GRCh37
NC_000011.8:g.71494814G>C	NCBI36
NG_021423.1:g.30785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.169G>C (TOMT) MANE Select	ENSP00000494667.1:p.Ala57Pro
ENST00000541899.2:c.169G>C (TOMT)	ENSP00000494667.1:p.Ala57Pro
ENST00000643715.1:c.438-2485G>C (LRTOMT)	ENSP00000496019.1:n.438-2485G>C
ENST00000646163.1:c.137G>C (LRTOMT)	ENSP00000494749.1:p.Cys46Ser
ENST00000307198.11:c.268G>C (LRRC51)	ENSP00000305742.7:p.Ala90Pro
ENST00000419228.2:c.148G>C (LRRC51)	ENSP00000392233.2:p.Ala50Pro
ENST00000427369.6:c.671G>C (LRRC51)	ENSP00000409403.2:p.Cys224Ser
ENST00000435085.5:c.268G>C (LRRC51)	ENSP00000409789.1:p.Ala90Pro
ENST00000439209.5:c.438-2485G>C (LRRC51)	ENSP00000395139.1:n.438-2485G>C
ENST00000541899.1:n.326G>C (LRRC51)
ENST00000544409.5:c.551G>C (LRRC51)	ENSP00000440969.1:p.Cys184Ser
NM_001145308.4:c.268G>C (LRTOMT)	NP_001138780.1:p.Ala90Pro
NM_001145309.3:c.268G>C (LRTOMT)	NP_001138781.1:p.Ala90Pro
NM_001145310.3:c.148G>C (LRTOMT)	NP_001138782.1:p.Ala50Pro
XM_011544849.1:c.493G>C (LRTOMT)	XP_011543151.1:p.Ala165Pro
XM_024448401.1:c.493G>C (LRTOMT)	XP_024304169.1:p.Ala165Pro
NM_001145308.5:c.268G>C (LRTOMT)	NP_001138780.1:p.Ala90Pro
NM_001145309.4:c.268G>C (LRTOMT)	NP_001138781.1:p.Ala90Pro
NM_001145310.4:c.148G>C (LRTOMT)	NP_001138782.1:p.Ala50Pro
NM_001393500.1:c.169G>C (TOMT)	NP_001380429.1:p.Ala57Pro
NM_001393500.2:c.169G>C (TOMT) MANE Select	NP_001380429.1:p.Ala57Pro