Canonical Allele Identifier: CA859825

Gene: LRP8

Linked Data

• dbSNP Id: rs766258130
• ExAC: 1:53712714 G / C
• gnomAD v2: 1-53712714-G-C
• gnomAD v4: 1-53247042-G-C
• MyVariant Identifiers: chr1:g.53712714G>C (hg19) ; chr1:g.53247042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247042G>C , CM000663.2:g.53247042G>C	GRCh38
NC_000001.10:g.53712714G>C , CM000663.1:g.53712714G>C	GRCh37
NC_000001.9:g.53485302G>C	NCBI36
NG_011517.2:g.86108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2868C>G MANE Select	ENSP00000303634.6:p.Ser956Arg
ENST00000347547.7:c.2358C>G	ENSP00000334522.2:p.Ser786Arg
ENST00000465675.6:c.2502C>G	ENSP00000437009.2:p.Ser834Arg
ENST00000480045.6:c.*1033C>G	ENSP00000433554.2:n.*1033C>G
ENST00000529670.6:c.406C>G
ENST00000653217.1:c.2403C>G	ENSP00000499777.1:p.Ser801Arg
ENST00000653810.1:c.1589C>G
ENST00000654834.1:n.2328C>G
ENST00000654947.1:c.370C>G	ENSP00000499442.1:p.Pro124Ala
ENST00000656486.1:c.1998C>G	ENSP00000499708.1:p.Ser666Arg
ENST00000657047.1:c.712C>G
ENST00000657895.1:c.2349C>G	ENSP00000499764.1:p.Ser783Arg
ENST00000658277.1:c.2103C>G	ENSP00000499550.1:p.Ser701Arg
ENST00000658404.1:n.2196C>G
ENST00000661457.1:c.*2087C>G	ENSP00000499547.1:n.*2087C>G
ENST00000662198.1:c.2481C>G	ENSP00000499355.1:p.Ser827Arg
ENST00000662604.1:c.2175C>G	ENSP00000499486.1:p.Ser725Arg
ENST00000662802.1:c.630C>G
ENST00000667377.1:c.2677-1061C>G	ENSP00000499405.1:n.2677-1061C>G
ENST00000668071.1:c.2275C>G
ENST00000668448.1:c.2643C>G	ENSP00000499273.1:p.Ser881Arg
ENST00000668991.1:n.2581C>G
ENST00000669432.1:n.9332C>G
ENST00000306052.10:c.2868C>G	ENSP00000303634.6:p.Ser956Arg
ENST00000347547.6:c.2358C>G	ENSP00000334522.2:p.Ser786Arg
ENST00000354412.7:c.2079C>G	ENSP00000346391.3:p.Ser693Arg
ENST00000371454.6:c.2691C>G	ENSP00000360509.2:p.Ser897Arg
ENST00000465675.5:c.1350C>G	ENSP00000437009.1:p.Ser450Arg
ENST00000480045.5:c.*1810C>G	ENSP00000433554.1:n.*1810C>G
ENST00000529670.5:c.341C>G
ENST00000613948.4:c.2076C>G	ENSP00000480025.1:p.Ser692Arg
NM_001018054.2:c.2691C>G	NP_001018064.1:p.Ser897Arg
NM_004631.4:c.2868C>G	NP_004622.2:p.Ser956Arg
NM_017522.4:c.2079C>G	NP_059992.3:p.Ser693Arg
NM_033300.3:c.2358C>G	NP_150643.2:p.Ser786Arg
XM_005271173.2:c.2907C>G	XP_005271230.1:p.Ser969Arg
XM_005271174.2:c.2520C>G	XP_005271231.1:p.Ser840Arg
XM_005271175.2:c.2481C>G	XP_005271232.1:p.Ser827Arg
XM_006710881.2:c.2730C>G	XP_006710944.1:p.Ser910Arg
XM_006710882.2:c.2682C>G	XP_006710945.1:p.Ser894Arg
XM_011542094.1:c.2781C>G	XP_011540396.1:p.Ser927Arg
XM_011542095.1:c.2391C>G	XP_011540397.1:p.Ser797Arg
XM_011542097.1:c.2994C>G	XP_011540399.1:p.Ser998Arg
XM_005271173.4:c.2907C>G	XP_005271230.1:p.Ser969Arg
XM_005271174.3:c.2520C>G	XP_005271231.1:p.Ser840Arg
XM_005271175.3:c.2481C>G	XP_005271232.1:p.Ser827Arg
XM_006710881.4:c.2730C>G	XP_006710944.1:p.Ser910Arg
XM_006710882.4:c.2682C>G	XP_006710945.1:p.Ser894Arg
XM_011542094.2:c.2781C>G	XP_011540396.1:p.Ser927Arg
XM_011542095.2:c.2391C>G	XP_011540397.1:p.Ser797Arg
XM_017002265.1:c.2742C>G	XP_016857754.1:p.Ser914Arg
XM_017002266.2:c.2505C>G	XP_016857755.1:p.Ser835Arg
XM_017002267.1:c.1650C>G	XP_016857756.1:p.Ser550Arg
XM_017002268.1:c.1650C>G	XP_016857757.1:p.Ser550Arg
NM_001018054.3:c.2691C>G	NP_001018064.1:p.Ser897Arg
NM_004631.5:c.2868C>G MANE Select	NP_004622.2:p.Ser956Arg
NM_017522.5:c.2079C>G	NP_059992.3:p.Ser693Arg
NM_033300.4:c.2358C>G	NP_150643.2:p.Ser786Arg