Canonical Allele Identifier: CA381721436

Gene: LRRC51 LRTOMT LAMTOR1

Linked Data

• dbSNP Id: rs2136541599
• gnomAD v3: 11-72095017-G-A
• gnomAD v4: 11-72095017-G-A
• MyVariant Identifiers: chr11:g.71806063G>A (hg19) ; chr11:g.72095017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72095017G>A , CM000673.2:g.72095017G>A	GRCh38
NC_000011.9:g.71806063G>A , CM000673.1:g.71806063G>A	GRCh37
NC_000011.8:g.71483711G>A	NCBI36
NG_021423.1:g.19682G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000289488.8:c.358G>A (LRRC51) MANE Select	ENSP00000289488.2:p.Val120Met
ENST00000289488.7:c.358G>A (LRRC51)	ENSP00000289488.2:p.Val120Met
ENST00000535883.6:c.*421G>A (LRRC51)	ENSP00000437561.1:n.*421G>A
ENST00000536917.2:c.358G>A (LRRC51)	ENSP00000443421.1:p.Val120Met
ENST00000538413.6:c.358G>A (LRRC51)	ENSP00000438762.2:p.Val120Met
ENST00000539271.6:c.-57G>A (LRRC51)	ENSP00000442267.2:n.-57G>A
ENST00000539587.6:c.-57G>A (LRRC51)	ENSP00000437649.2:n.-57G>A
ENST00000642478.1:c.*421G>A (LRRC51)	ENSP00000495182.1:n.*421G>A
ENST00000642510.1:c.-57G>A (LRRC51)	ENSP00000496544.1:n.-57G>A
ENST00000642648.1:c.358G>A (LRRC51)	ENSP00000494362.1:p.Val120Met
ENST00000643715.1:c.358G>A (LRTOMT)	ENSP00000496019.1:p.Val120Met
ENST00000644745.1:n.493G>A (LRRC51)
ENST00000645358.1:c.*421G>A (LRRC51)	ENSP00000495121.1:n.*421G>A
ENST00000646163.1:c.-57G>A (LRTOMT)	ENSP00000494749.1:n.-57G>A
ENST00000647530.1:c.358G>A (LRRC51)	ENSP00000494072.1:p.Val120Met
ENST00000289488.6:c.358G>A (LRRC51)	ENSP00000289488.2:p.Val120Met
ENST00000307198.11:c.-46G>A (LRRC51)	ENSP00000305742.7:n.-46G>A
ENST00000324866.11:c.358G>A (LRRC51)	ENSP00000440693.1:p.Val120Met
ENST00000412777.6:n.385G>A (LRRC51)
ENST00000419228.2:c.-46G>A (LRRC51)	ENSP00000392233.2:n.-46G>A
ENST00000423494.6:c.304G>A (LRRC51)	ENSP00000441249.1:p.Val102Met
ENST00000427369.6:c.358G>A (LRRC51)	ENSP00000409403.2:p.Val120Met
ENST00000435085.5:c.-46G>A (LRRC51)	ENSP00000409789.1:n.-46G>A
ENST00000439209.5:c.358G>A (LRRC51)	ENSP00000395139.1:p.Val120Met
ENST00000440313.2:c.-46G>A (LRRC51)	ENSP00000390485.2:n.-46G>A
ENST00000447974.5:c.358G>A (LRRC51)	ENSP00000414271.2:p.Val120Met
ENST00000535107.5:c.267-240C>T (LAMTOR1)	ENSP00000445170.1:n.267-240C>T
ENST00000535883.5:c.*421G>A (LRRC51)	ENSP00000437561.1:n.*421G>A
ENST00000536917.1:c.358G>A (LRRC51)	ENSP00000443421.1:p.Val120Met
ENST00000538478.5:c.358G>A (LRRC51)	ENSP00000444583.1:p.Val120Met
ENST00000539271.5:c.-46G>A (LRRC51)	ENSP00000442267.1:n.-46G>A
ENST00000539587.5:c.-46G>A (LRRC51)	ENSP00000437649.1:n.-46G>A
ENST00000541614.5:c.358G>A (LRRC51)	ENSP00000438522.1:p.Val120Met
ENST00000544409.5:c.358G>A (LRRC51)	ENSP00000440969.1:p.Val120Met
ENST00000545249.5:c.393+3272C>T (LAMTOR1)	ENSP00000440738.1:n.393+3272C>T
ENST00000615940.4:c.304G>A (LRRC51)	ENSP00000482923.1:p.Val102Met
NM_001145307.4:c.358G>A (LRTOMT)	NP_001138779.1:p.Val120Met
NM_001145308.4:c.-46G>A (LRTOMT)	NP_001138780.1:n.-46G>A
NM_001145309.3:c.-46G>A (LRTOMT)	NP_001138781.1:n.-46G>A
NM_001145310.3:c.-46G>A (LRTOMT)	NP_001138782.1:n.-46G>A
NM_001205138.3:c.304G>A (LRTOMT)	NP_001192067.1:p.Val102Met
NM_001271471.2:c.358G>A (LRTOMT)	NP_001258400.1:p.Val120Met
NM_145309.5:c.358G>A (LRTOMT)	NP_660352.1:p.Val120Met
NR_026886.3:n.1232G>A (LRTOMT)
XM_006718472.2:c.358G>A (LRTOMT)	XP_006718535.1:p.Val120Met
XM_006718473.2:c.358G>A (LRTOMT)	XP_006718536.1:p.Val120Met
XM_006718474.2:c.358G>A (LRTOMT)	XP_006718537.1:p.Val120Met
XM_011544847.1:c.358G>A (LRTOMT)	XP_011543149.1:p.Val120Met
XM_011544848.1:c.358G>A (LRTOMT)	XP_011543150.1:p.Val120Met
NM_001318803.1:c.358G>A (LRTOMT)	NP_001305732.1:p.Val120Met
NR_134858.1:n.831G>A (LRTOMT)
XM_006718473.4:c.358G>A (LRTOMT)	XP_006718536.1:p.Val120Met
XM_006718474.4:c.358G>A (LRTOMT)	XP_006718537.1:p.Val120Met
XM_011544847.3:c.358G>A (LRTOMT)	XP_011543149.1:p.Val120Met
XM_011544848.3:c.358G>A (LRTOMT)	XP_011543150.1:p.Val120Met
NM_001145307.5:c.358G>A (LRTOMT)	NP_001138779.1:p.Val120Met
NM_001145308.5:c.-46G>A (LRTOMT)	NP_001138780.1:n.-46G>A
NM_001145309.4:c.-46G>A (LRTOMT)	NP_001138781.1:n.-46G>A
NM_001145310.4:c.-46G>A (LRTOMT)	NP_001138782.1:n.-46G>A
NM_001205138.4:c.304G>A (LRTOMT)	NP_001192067.1:p.Val102Met
NM_001271471.3:c.358G>A (LRTOMT)	NP_001258400.1:p.Val120Met
NM_001318803.2:c.358G>A (LRTOMT)	NP_001305732.1:p.Val120Met
NM_145309.6:c.358G>A (LRTOMT) MANE Select	NP_660352.1:p.Val120Met
NR_026886.4:n.713G>A (LRTOMT)