Canonical Allele Identifier: CA381718362

Gene: TOMT LRTOMT LRRC51

Linked Data

• dbSNP Id: rs1473750813
• gnomAD v2: 11-71817247-C-T
• gnomAD v4: 11-72106201-C-T
• MyVariant Identifiers: chr11:g.71817247C>T (hg19) ; chr11:g.72106201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106201C>T , CM000673.2:g.72106201C>T	GRCh38
NC_000011.9:g.71817247C>T , CM000673.1:g.71817247C>T	GRCh37
NC_000011.8:g.71494895C>T	NCBI36
NG_021423.1:g.30866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.250C>T (TOMT) MANE Select	ENSP00000494667.1:p.Pro84Ser
ENST00000541899.2:c.250C>T (TOMT)	ENSP00000494667.1:p.Pro84Ser
ENST00000643715.1:c.438-2404C>T (LRTOMT)	ENSP00000496019.1:n.438-2404C>T
ENST00000646163.1:c.*68C>T (LRTOMT)	ENSP00000494749.1:n.*68C>T
ENST00000307198.11:c.349C>T (LRRC51)	ENSP00000305742.7:p.Pro117Ser
ENST00000419228.2:c.229C>T (LRRC51)	ENSP00000392233.2:p.Pro77Ser
ENST00000427369.6:c.*68C>T (LRRC51)	ENSP00000409403.2:n.*68C>T
ENST00000435085.5:c.349C>T (LRRC51)	ENSP00000409789.1:p.Pro117Ser
ENST00000439209.5:c.438-2404C>T (LRRC51)	ENSP00000395139.1:n.438-2404C>T
ENST00000541899.1:n.407C>T (LRRC51)
ENST00000544409.5:c.*68C>T (LRRC51)	ENSP00000440969.1:n.*68C>T
NM_001145308.4:c.349C>T (LRTOMT)	NP_001138780.1:p.Pro117Ser
NM_001145309.3:c.349C>T (LRTOMT)	NP_001138781.1:p.Pro117Ser
NM_001145310.3:c.229C>T (LRTOMT)	NP_001138782.1:p.Pro77Ser
XM_011544849.1:c.574C>T (LRTOMT)	XP_011543151.1:p.Pro192Ser
XM_024448401.1:c.574C>T (LRTOMT)	XP_024304169.1:p.Pro192Ser
NM_001145308.5:c.349C>T (LRTOMT)	NP_001138780.1:p.Pro117Ser
NM_001145309.4:c.349C>T (LRTOMT)	NP_001138781.1:p.Pro117Ser
NM_001145310.4:c.229C>T (LRTOMT)	NP_001138782.1:p.Pro77Ser
NM_001393500.1:c.250C>T (TOMT)	NP_001380429.1:p.Pro84Ser
NM_001393500.2:c.250C>T (TOMT) MANE Select	NP_001380429.1:p.Pro84Ser