Canonical Allele Identifier: CA2645717404

Gene: LRP8

Linked Data

• gnomAD v4: 1-53247030-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247031dup , CM000663.2:g.53247031dup	GRCh38
NC_000001.10:g.53712703dup , CM000663.1:g.53712703dup	GRCh37
NC_000001.9:g.53485291dup	NCBI36
NG_011517.2:g.86119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2879dup MANE Select	ENSP00000303634.6:p.Asp960GlufsTer28
ENST00000347547.7:c.2369dup	ENSP00000334522.2:p.Asp790GlufsTer?
ENST00000465675.6:c.2513dup	ENSP00000437009.2:p.Asp838GlufsTer28
ENST00000480045.6:c.*1044dup	ENSP00000433554.2:n.*1044dup
ENST00000529670.6:c.417dup
ENST00000653217.1:c.2414dup	ENSP00000499777.1:p.Asp805GlufsTer28
ENST00000653810.1:c.1600dup
ENST00000654834.1:n.2339dup
ENST00000654947.1:c.381dup	ENSP00000499442.1:n.381dup
ENST00000656486.1:c.2009dup	ENSP00000499708.1:p.Asp670GlufsTer28
ENST00000657047.1:c.723dup
ENST00000657895.1:c.2360dup	ENSP00000499764.1:p.Asp787GlufsTer28
ENST00000658277.1:c.2114dup	ENSP00000499550.1:p.Asp705GlufsTer28
ENST00000658404.1:n.2207dup
ENST00000661457.1:c.*2098dup	ENSP00000499547.1:n.*2098dup
ENST00000662198.1:c.2492dup	ENSP00000499355.1:p.Asp831GlufsTer28
ENST00000662604.1:c.2186dup	ENSP00000499486.1:p.Asp729GlufsTer28
ENST00000662802.1:c.641dup
ENST00000667377.1:c.2677-1050dup	ENSP00000499405.1:n.2677-1050dup
ENST00000668071.1:c.2286dup
ENST00000668448.1:c.2654dup	ENSP00000499273.1:p.Asp885GlufsTer28
ENST00000668991.1:n.2592dup
ENST00000669432.1:n.9343dup
ENST00000306052.10:c.2879dup	ENSP00000303634.6:p.Asp960GlufsTer28
ENST00000347547.6:c.2369dup	ENSP00000334522.2:p.Asp790GlufsTer?
ENST00000354412.7:c.2090dup	ENSP00000346391.3:p.Asp697GlufsTer28
ENST00000371454.6:c.2702dup	ENSP00000360509.2:p.Asp901GlufsTer28
ENST00000465675.5:c.1361dup	ENSP00000437009.1:p.Asp454GlufsTer28
ENST00000480045.5:c.*1821dup	ENSP00000433554.1:n.*1821dup
ENST00000529670.5:c.352dup
ENST00000613948.4:c.2087dup	ENSP00000480025.1:p.Asp696GlufsTer28
NM_001018054.2:c.2702dup	NP_001018064.1:p.Asp901GlufsTer28
NM_004631.4:c.2879dup	NP_004622.2:p.Asp960GlufsTer28
NM_017522.4:c.2090dup	NP_059992.3:p.Asp697GlufsTer28
NM_033300.3:c.2369dup	NP_150643.2:p.Asp790GlufsTer28
XM_005271173.2:c.2918dup	XP_005271230.1:p.Asp973GlufsTer28
XM_005271174.2:c.2531dup	XP_005271231.1:p.Asp844GlufsTer28
XM_005271175.2:c.2492dup	XP_005271232.1:p.Asp831GlufsTer28
XM_006710881.2:c.2741dup	XP_006710944.1:p.Asp914GlufsTer28
XM_006710882.2:c.2693dup	XP_006710945.1:p.Asp898GlufsTer28
XM_011542094.1:c.2792dup	XP_011540396.1:p.Asp931GlufsTer28
XM_011542095.1:c.2402dup	XP_011540397.1:p.Asp801GlufsTer28
XM_011542097.1:c.3005dup	XP_011540399.1:p.Asp1002GlufsTer28
XM_005271173.4:c.2918dup	XP_005271230.1:p.Asp973GlufsTer28
XM_005271174.3:c.2531dup	XP_005271231.1:p.Asp844GlufsTer28
XM_005271175.3:c.2492dup	XP_005271232.1:p.Asp831GlufsTer28
XM_006710881.4:c.2741dup	XP_006710944.1:p.Asp914GlufsTer28
XM_006710882.4:c.2693dup	XP_006710945.1:p.Asp898GlufsTer28
XM_011542094.2:c.2792dup	XP_011540396.1:p.Asp931GlufsTer28
XM_011542095.2:c.2402dup	XP_011540397.1:p.Asp801GlufsTer28
XM_017002265.1:c.2753dup	XP_016857754.1:p.Asp918GlufsTer28
XM_017002266.2:c.2516dup	XP_016857755.1:p.Asp839GlufsTer28
XM_017002267.1:c.1661dup	XP_016857756.1:p.Asp554GlufsTer28
XM_017002268.1:c.1661dup	XP_016857757.1:p.Asp554GlufsTer28
NM_001018054.3:c.2702dup	NP_001018064.1:p.Asp901GlufsTer28
NM_004631.5:c.2879dup MANE Select	NP_004622.2:p.Asp960GlufsTer28
NM_017522.5:c.2090dup	NP_059992.3:p.Asp697GlufsTer28
NM_033300.4:c.2369dup	NP_150643.2:p.Asp790GlufsTer28