Canonical Allele Identifier: CA6168226

Linked Data

ClinVar Variation Id: 226718
dbSNP Id: rs149637884

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72095011G>C , CM000673.2:g.72095011G>C GRCh38
NC_000011.9:g.71806057G>C , CM000673.1:g.71806057G>C GRCh37
NC_000011.8:g.71483705G>C NCBI36
NG_021423.1:g.19676G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000289488.8:c.352G>C (LRRC51) MANE Select ENSP00000289488.2:p.Gly118Arg
ENST00000289488.7:c.352G>C (LRRC51) ENSP00000289488.2:p.Gly118Arg
ENST00000535883.6:c.*415G>C (LRRC51) ENSP00000437561.1:n.*415G>C
ENST00000536917.2:c.352G>C (LRRC51) ENSP00000443421.1:p.Gly118Arg
ENST00000538413.6:c.352G>C (LRRC51) ENSP00000438762.2:p.Gly118Arg
ENST00000539271.6:c.-63G>C (LRRC51) ENSP00000442267.2:n.-63G>C
ENST00000539587.6:c.-63G>C (LRRC51) ENSP00000437649.2:n.-63G>C
ENST00000642478.1:c.*415G>C (LRRC51) ENSP00000495182.1:n.*415G>C
ENST00000642510.1:c.-63G>C (LRRC51) ENSP00000496544.1:n.-63G>C
ENST00000642648.1:c.352G>C (LRRC51) ENSP00000494362.1:p.Gly118Arg
ENST00000643715.1:c.352G>C (LRTOMT) ENSP00000496019.1:p.Gly118Arg
ENST00000644745.1:n.487G>C (LRRC51)
ENST00000645358.1:c.*415G>C (LRRC51) ENSP00000495121.1:n.*415G>C
ENST00000646163.1:c.-63G>C (LRTOMT) ENSP00000494749.1:n.-63G>C
ENST00000647530.1:c.352G>C (LRRC51) ENSP00000494072.1:p.Gly118Arg
ENST00000289488.6:c.352G>C (LRRC51) ENSP00000289488.2:p.Gly118Arg
ENST00000307198.11:c.-52G>C (LRRC51) ENSP00000305742.7:n.-52G>C
ENST00000324866.11:c.352G>C (LRRC51) ENSP00000440693.1:p.Gly118Arg
ENST00000412777.6:n.379G>C (LRRC51)
ENST00000419228.2:c.-52G>C (LRRC51) ENSP00000392233.2:n.-52G>C
ENST00000423494.6:c.298G>C (LRRC51) ENSP00000441249.1:p.Gly100Arg
ENST00000427369.6:c.352G>C (LRRC51) ENSP00000409403.2:p.Gly118Arg
ENST00000435085.5:c.-52G>C (LRRC51) ENSP00000409789.1:n.-52G>C
ENST00000439209.5:c.352G>C (LRRC51) ENSP00000395139.1:p.Gly118Arg
ENST00000440313.2:c.-52G>C (LRRC51) ENSP00000390485.2:n.-52G>C
ENST00000447974.5:c.352G>C (LRRC51) ENSP00000414271.2:p.Gly118Arg
ENST00000535107.5:c.267-234C>G (LAMTOR1) ENSP00000445170.1:n.267-234C>G
ENST00000535883.5:c.*415G>C (LRRC51) ENSP00000437561.1:n.*415G>C
ENST00000536917.1:c.352G>C (LRRC51) ENSP00000443421.1:p.Gly118Arg
ENST00000538478.5:c.352G>C (LRRC51) ENSP00000444583.1:p.Gly118Arg
ENST00000539271.5:c.-52G>C (LRRC51) ENSP00000442267.1:n.-52G>C
ENST00000539587.5:c.-52G>C (LRRC51) ENSP00000437649.1:n.-52G>C
ENST00000541614.5:c.352G>C (LRRC51) ENSP00000438522.1:p.Gly118Arg
ENST00000544409.5:c.352G>C (LRRC51) ENSP00000440969.1:p.Gly118Arg
ENST00000545249.5:c.393+3278C>G (LAMTOR1) ENSP00000440738.1:n.393+3278C>G
ENST00000615940.4:c.298G>C (LRRC51) ENSP00000482923.1:p.Gly100Arg
NM_001145307.4:c.352G>C (LRTOMT) NP_001138779.1:p.Gly118Arg
NM_001145308.4:c.-52G>C (LRTOMT) NP_001138780.1:n.-52G>C
NM_001145309.3:c.-52G>C (LRTOMT) NP_001138781.1:n.-52G>C
NM_001145310.3:c.-52G>C (LRTOMT) NP_001138782.1:n.-52G>C
NM_001205138.3:c.298G>C (LRTOMT) NP_001192067.1:p.Gly100Arg
NM_001271471.2:c.352G>C (LRTOMT) NP_001258400.1:p.Gly118Arg
NM_145309.5:c.352G>C (LRTOMT) NP_660352.1:p.Gly118Arg
NR_026886.3:n.1226G>C (LRTOMT)
XM_006718472.2:c.352G>C (LRTOMT) XP_006718535.1:p.Gly118Arg
XM_006718473.2:c.352G>C (LRTOMT) XP_006718536.1:p.Gly118Arg
XM_006718474.2:c.352G>C (LRTOMT) XP_006718537.1:p.Gly118Arg
XM_011544847.1:c.352G>C (LRTOMT) XP_011543149.1:p.Gly118Arg
XM_011544848.1:c.352G>C (LRTOMT) XP_011543150.1:p.Gly118Arg
NM_001318803.1:c.352G>C (LRTOMT) NP_001305732.1:p.Gly118Arg
NR_134858.1:n.825G>C (LRTOMT)
XM_006718473.4:c.352G>C (LRTOMT) XP_006718536.1:p.Gly118Arg
XM_006718474.4:c.352G>C (LRTOMT) XP_006718537.1:p.Gly118Arg
XM_011544847.3:c.352G>C (LRTOMT) XP_011543149.1:p.Gly118Arg
XM_011544848.3:c.352G>C (LRTOMT) XP_011543150.1:p.Gly118Arg
NM_001145307.5:c.352G>C (LRTOMT) NP_001138779.1:p.Gly118Arg
NM_001145308.5:c.-52G>C (LRTOMT) NP_001138780.1:n.-52G>C
NM_001145309.4:c.-52G>C (LRTOMT) NP_001138781.1:n.-52G>C
NM_001145310.4:c.-52G>C (LRTOMT) NP_001138782.1:n.-52G>C
NM_001205138.4:c.298G>C (LRTOMT) NP_001192067.1:p.Gly100Arg
NM_001271471.3:c.352G>C (LRTOMT) NP_001258400.1:p.Gly118Arg
NM_001318803.2:c.352G>C (LRTOMT) NP_001305732.1:p.Gly118Arg
NM_145309.6:c.352G>C (LRTOMT) MANE Select NP_660352.1:p.Gly118Arg
NR_026886.4:n.707G>C (LRTOMT)