Canonical Allele Identifier: CA10640054

Gene: LRRC51 LRTOMT

Linked Data

• ClinVar Variation Id: 305982
• ClinVar RCV Id: RCV000319338
• dbSNP Id: rs767961368
• gnomAD v2: 11-71791936-G-A
• gnomAD v3: 11-72080890-G-A
• gnomAD v4: 11-72080890-G-A
• MyVariant Identifiers: chr11:g.71791936G>A (hg19) ; chr11:g.72080890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72080890G>A , CM000673.2:g.72080890G>A	GRCh38
NC_000011.9:g.71791936G>A , CM000673.1:g.71791936G>A	GRCh37
NC_000011.8:g.71469584G>A	NCBI36
NG_021423.1:g.5555G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000289488.8:c.-140+5G>A (LRRC51) MANE Select	ENSP00000289488.2:n.-140+5G>A
ENST00000289488.7:c.-140+5G>A (LRRC51)	ENSP00000289488.2:n.-140+5G>A
ENST00000535883.6:c.-140+128G>A (LRRC51)	ENSP00000437561.1:n.-140+128G>A
ENST00000536917.2:c.-97+5G>A (LRRC51)	ENSP00000443421.1:n.-97+5G>A
ENST00000538413.6:c.-56+5G>A (LRRC51)	ENSP00000438762.2:n.-56+5G>A
ENST00000539271.6:c.-333+128G>A (LRRC51)	ENSP00000442267.2:n.-333+128G>A
ENST00000539587.6:c.-127+5G>A (LRRC51)	ENSP00000437649.2:n.-127+5G>A
ENST00000642478.1:c.-140+5G>A (LRRC51)	ENSP00000495182.1:n.-140+5G>A
ENST00000642510.1:c.-333+5G>A (LRRC51)	ENSP00000496544.1:n.-333+5G>A
ENST00000642648.1:c.-140+128G>A (LRRC51)	ENSP00000494362.1:n.-140+128G>A
ENST00000642813.1:n.320+5G>A (LRRC51)
ENST00000643715.1:c.-97+5G>A (LRTOMT)	ENSP00000496019.1:n.-97+5G>A
ENST00000645358.1:c.-97+5G>A (LRRC51)	ENSP00000495121.1:n.-97+5G>A
ENST00000646163.1:c.-333+5G>A (LRTOMT)	ENSP00000494749.1:n.-333+5G>A
ENST00000647530.1:c.-303+5G>A (LRRC51)	ENSP00000494072.1:n.-303+5G>A
ENST00000289488.6:c.-140+5G>A (LRRC51)	ENSP00000289488.2:n.-140+5G>A
ENST00000307198.11:c.-322+5G>A (LRRC51)	ENSP00000305742.7:n.-322+5G>A
ENST00000324866.11:c.-140+5G>A (LRRC51)	ENSP00000440693.1:n.-140+5G>A
ENST00000412777.6:n.109+5G>A (LRRC51)
ENST00000423494.6:c.-57+5G>A (LRRC51)	ENSP00000441249.1:n.-57+5G>A
ENST00000427369.6:c.-140+5G>A (LRRC51)	ENSP00000409403.2:n.-140+5G>A
ENST00000439209.5:c.-140+5G>A (LRRC51)	ENSP00000395139.1:n.-140+5G>A
ENST00000535883.5:c.-140+5G>A (LRRC51)	ENSP00000437561.1:n.-140+5G>A
ENST00000538413.5:c.-140+128G>A (LRRC51)	ENSP00000438762.1:n.-140+128G>A
ENST00000538478.5:c.-97+5G>A (LRRC51)	ENSP00000444583.1:n.-97+5G>A
ENST00000539271.5:c.-322+5G>A (LRRC51)	ENSP00000442267.1:n.-322+5G>A
ENST00000539587.5:c.-116+5G>A (LRRC51)	ENSP00000437649.1:n.-116+5G>A
ENST00000544409.5:c.-140+5G>A (LRRC51)	ENSP00000440969.1:n.-140+5G>A
NM_001145307.4:c.-140+5G>A (LRTOMT)	NP_001138779.1:n.-140+5G>A
NM_001145308.4:c.-322+5G>A (LRTOMT)	NP_001138780.1:n.-322+5G>A
NM_001145309.3:c.-543+5G>A (LRTOMT)	NP_001138781.1:n.-543+5G>A
NM_001145310.3:c.-543+5G>A (LRTOMT)	NP_001138782.1:n.-543+5G>A
NM_001205138.3:c.-57+5G>A (LRTOMT)	NP_001192067.1:n.-57+5G>A
NM_001271471.2:c.-140+5G>A (LRTOMT)	NP_001258400.1:n.-140+5G>A
NM_145309.5:c.-140+5G>A (LRTOMT)	NP_660352.1:n.-140+5G>A
NR_026886.3:n.555+5G>A (LRTOMT)
XM_006718472.2:c.-97+5G>A (LRTOMT)	XP_006718535.1:n.-97+5G>A
XM_006718473.2:c.-140+128G>A (LRTOMT)	XP_006718536.1:n.-140+128G>A
XM_006718474.2:c.-56+5G>A (LRTOMT)	XP_006718537.1:n.-56+5G>A
XM_011544847.1:c.-245+5G>A (LRTOMT)	XP_011543149.1:n.-245+5G>A
XM_011544848.1:c.-303+5G>A (LRTOMT)	XP_011543150.1:n.-303+5G>A
NM_001318803.1:c.-97+5G>A (LRTOMT)	NP_001305732.1:n.-97+5G>A
NR_134858.1:n.555+5G>A (LRTOMT)
XM_006718473.4:c.-140+128G>A (LRTOMT)	XP_006718536.1:n.-140+128G>A
XM_006718474.4:c.-56+5G>A (LRTOMT)	XP_006718537.1:n.-56+5G>A
XM_011544847.3:c.-245+5G>A (LRTOMT)	XP_011543149.1:n.-245+5G>A
XM_011544848.3:c.-303+5G>A (LRTOMT)	XP_011543150.1:n.-303+5G>A
NM_001145307.5:c.-140+5G>A (LRTOMT)	NP_001138779.1:n.-140+5G>A
NM_001145308.5:c.-322+5G>A (LRTOMT)	NP_001138780.1:n.-322+5G>A
NM_001145309.4:c.-543+5G>A (LRTOMT)	NP_001138781.1:n.-543+5G>A
NM_001145310.4:c.-543+5G>A (LRTOMT)	NP_001138782.1:n.-543+5G>A
NM_001205138.4:c.-57+5G>A (LRTOMT)	NP_001192067.1:n.-57+5G>A
NM_001271471.3:c.-140+5G>A (LRTOMT)	NP_001258400.1:n.-140+5G>A
NM_001318803.2:c.-97+5G>A (LRTOMT)	NP_001305732.1:n.-97+5G>A
NM_145309.6:c.-140+5G>A (LRTOMT) MANE Select	NP_660352.1:n.-140+5G>A
NR_026886.4:n.36+5G>A (LRTOMT)