Canonical Allele Identifier: CA417902717

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712723C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247051C>T , CM000663.2:g.53247051C>T	GRCh38
NC_000001.10:g.53712723C>T , CM000663.1:g.53712723C>T	GRCh37
NC_000001.9:g.53485311C>T	NCBI36
NG_011517.2:g.86099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2859G>A MANE Select	ENSP00000303634.6:p.Val953=
ENST00000347547.7:c.2349G>A	ENSP00000334522.2:p.Val783=
ENST00000465675.6:c.2493G>A	ENSP00000437009.2:p.Val831=
ENST00000480045.6:c.*1024G>A	ENSP00000433554.2:n.*1024G>A
ENST00000529670.6:c.397G>A
ENST00000653217.1:c.2394G>A	ENSP00000499777.1:p.Val798=
ENST00000653810.1:c.1580G>A
ENST00000654834.1:n.2319G>A
ENST00000654947.1:c.361G>A	ENSP00000499442.1:p.Gly121Ser
ENST00000656486.1:c.1989G>A	ENSP00000499708.1:p.Val663=
ENST00000657047.1:c.703G>A
ENST00000657895.1:c.2340G>A	ENSP00000499764.1:p.Val780=
ENST00000658277.1:c.2094G>A	ENSP00000499550.1:p.Val698=
ENST00000658404.1:n.2187G>A
ENST00000661457.1:c.*2078G>A	ENSP00000499547.1:n.*2078G>A
ENST00000662198.1:c.2472G>A	ENSP00000499355.1:p.Val824=
ENST00000662604.1:c.2166G>A	ENSP00000499486.1:p.Val722=
ENST00000662802.1:c.621G>A
ENST00000667377.1:c.2677-1070G>A	ENSP00000499405.1:n.2677-1070G>A
ENST00000668071.1:c.2266G>A
ENST00000668448.1:c.2634G>A	ENSP00000499273.1:p.Val878=
ENST00000668991.1:n.2572G>A
ENST00000669432.1:n.9323G>A
ENST00000306052.10:c.2859G>A	ENSP00000303634.6:p.Val953=
ENST00000347547.6:c.2349G>A	ENSP00000334522.2:p.Val783=
ENST00000354412.7:c.2070G>A	ENSP00000346391.3:p.Val690=
ENST00000371454.6:c.2682G>A	ENSP00000360509.2:p.Val894=
ENST00000465675.5:c.1341G>A	ENSP00000437009.1:p.Val447=
ENST00000480045.5:c.*1801G>A	ENSP00000433554.1:n.*1801G>A
ENST00000529670.5:c.332G>A
ENST00000613948.4:c.2067G>A	ENSP00000480025.1:p.Val689=
NM_001018054.2:c.2682G>A	NP_001018064.1:p.Val894=
NM_004631.4:c.2859G>A	NP_004622.2:p.Val953=
NM_017522.4:c.2070G>A	NP_059992.3:p.Val690=
NM_033300.3:c.2349G>A	NP_150643.2:p.Val783=
XM_005271173.2:c.2898G>A	XP_005271230.1:p.Val966=
XM_005271174.2:c.2511G>A	XP_005271231.1:p.Val837=
XM_005271175.2:c.2472G>A	XP_005271232.1:p.Val824=
XM_006710881.2:c.2721G>A	XP_006710944.1:p.Val907=
XM_006710882.2:c.2673G>A	XP_006710945.1:p.Val891=
XM_011542094.1:c.2772G>A	XP_011540396.1:p.Val924=
XM_011542095.1:c.2382G>A	XP_011540397.1:p.Val794=
XM_011542097.1:c.2985G>A	XP_011540399.1:p.Val995=
XM_005271173.4:c.2898G>A	XP_005271230.1:p.Val966=
XM_005271174.3:c.2511G>A	XP_005271231.1:p.Val837=
XM_005271175.3:c.2472G>A	XP_005271232.1:p.Val824=
XM_006710881.4:c.2721G>A	XP_006710944.1:p.Val907=
XM_006710882.4:c.2673G>A	XP_006710945.1:p.Val891=
XM_011542094.2:c.2772G>A	XP_011540396.1:p.Val924=
XM_011542095.2:c.2382G>A	XP_011540397.1:p.Val794=
XM_017002265.1:c.2733G>A	XP_016857754.1:p.Val911=
XM_017002266.2:c.2496G>A	XP_016857755.1:p.Val832=
XM_017002267.1:c.1641G>A	XP_016857756.1:p.Val547=
XM_017002268.1:c.1641G>A	XP_016857757.1:p.Val547=
NM_001018054.3:c.2682G>A	NP_001018064.1:p.Val894=
NM_004631.5:c.2859G>A MANE Select	NP_004622.2:p.Val953=
NM_017522.5:c.2070G>A	NP_059992.3:p.Val690=
NM_033300.4:c.2349G>A	NP_150643.2:p.Val783=