Canonical Allele Identifier: CA185304

Gene: TOMT LRTOMT LRRC51

Linked Data

• ClinVar Variation Id: 179867
• ClinVar RCV Id: RCV000156667 ; RCV002516344 ; RCV003352784
• dbSNP Id: rs574631765
• ExAC: 11:71817089 T / G
• gnomAD v2: 11-71817089-T-G
• gnomAD v3: 11-72106043-T-G
• gnomAD v4: 11-72106043-T-G
• MyVariant Identifiers: chr11:g.71817089T>G (hg19) ; chr11:g.72106043T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106043T>G , CM000673.2:g.72106043T>G	GRCh38
NC_000011.9:g.71817089T>G , CM000673.1:g.71817089T>G	GRCh37
NC_000011.8:g.71494737T>G	NCBI36
NG_021423.1:g.30708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.92T>G (TOMT) MANE Select	ENSP00000494667.1:p.Val31Gly
ENST00000541899.2:c.92T>G (TOMT)	ENSP00000494667.1:p.Val31Gly
ENST00000643715.1:c.438-2562T>G (LRTOMT)	ENSP00000496019.1:n.438-2562T>G
ENST00000646163.1:c.73-13T>G (LRTOMT)	ENSP00000494749.1:n.73-13T>G
ENST00000307198.11:c.191T>G (LRRC51)	ENSP00000305742.7:p.Val64Gly
ENST00000419228.2:c.84-13T>G (LRRC51)	ENSP00000392233.2:n.84-13T>G
ENST00000427369.6:c.594T>G (LRRC51)	ENSP00000409403.2:p.Gly198=
ENST00000435085.5:c.191T>G (LRRC51)	ENSP00000409789.1:p.Val64Gly
ENST00000439209.5:c.438-2562T>G (LRRC51)	ENSP00000395139.1:n.438-2562T>G
ENST00000541899.1:n.249T>G (LRRC51)
ENST00000544409.5:c.487-13T>G (LRRC51)	ENSP00000440969.1:n.487-13T>G
NM_001145308.4:c.191T>G (LRTOMT)	NP_001138780.1:p.Val64Gly
NM_001145309.3:c.191T>G (LRTOMT)	NP_001138781.1:p.Val64Gly
NM_001145310.3:c.84-13T>G (LRTOMT)	NP_001138782.1:n.84-13T>G
XM_011544849.1:c.416T>G (LRTOMT)	XP_011543151.1:p.Val139Gly
XM_024448401.1:c.416T>G (LRTOMT)	XP_024304169.1:p.Val139Gly
NM_001145308.5:c.191T>G (LRTOMT)	NP_001138780.1:p.Val64Gly
NM_001145309.4:c.191T>G (LRTOMT)	NP_001138781.1:p.Val64Gly
NM_001145310.4:c.84-13T>G (LRTOMT)	NP_001138782.1:n.84-13T>G
NM_001393500.1:c.92T>G (TOMT)	NP_001380429.1:p.Val31Gly
NM_001393500.2:c.92T>G (TOMT) MANE Select	NP_001380429.1:p.Val31Gly