Canonical Allele Identifier: CA522912644

Gene: LRP8

Linked Data

• dbSNP Id: rs1390282280
• gnomAD v2: 1-53712752-C-A
• gnomAD v4: 1-53247080-C-A
• MyVariant Identifiers: chr1:g.53712752C>A (hg19) ; chr1:g.53247080C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247080C>A , CM000663.2:g.53247080C>A	GRCh38
NC_000001.10:g.53712752C>A , CM000663.1:g.53712752C>A	GRCh37
NC_000001.9:g.53485340C>A	NCBI36
NG_011517.2:g.86070G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2854-24G>T MANE Select	ENSP00000303634.6:n.2854-24G>T
ENST00000347547.7:c.2344-24G>T	ENSP00000334522.2:n.2344-24G>T
ENST00000465675.6:c.2488-24G>T	ENSP00000437009.2:n.2488-24G>T
ENST00000480045.6:c.*1019-24G>T	ENSP00000433554.2:n.*1019-24G>T
ENST00000529670.6:c.392-24G>T
ENST00000653217.1:c.2389-24G>T	ENSP00000499777.1:n.2389-24G>T
ENST00000653810.1:c.1575-24G>T
ENST00000654834.1:n.2314-24G>T
ENST00000654947.1:c.356-24G>T	ENSP00000499442.1:n.356-24G>T
ENST00000656486.1:c.1984-24G>T	ENSP00000499708.1:n.1984-24G>T
ENST00000657047.1:c.698-24G>T
ENST00000657895.1:c.2335-24G>T	ENSP00000499764.1:n.2335-24G>T
ENST00000658277.1:c.2089-24G>T	ENSP00000499550.1:n.2089-24G>T
ENST00000658404.1:n.2182-24G>T
ENST00000661457.1:c.*2073-24G>T	ENSP00000499547.1:n.*2073-24G>T
ENST00000662198.1:c.2467-24G>T	ENSP00000499355.1:n.2467-24G>T
ENST00000662604.1:c.2161-24G>T	ENSP00000499486.1:n.2161-24G>T
ENST00000662802.1:c.616-24G>T
ENST00000667377.1:c.2677-1099G>T	ENSP00000499405.1:n.2677-1099G>T
ENST00000668071.1:c.2261-24G>T
ENST00000668448.1:c.2629-24G>T	ENSP00000499273.1:n.2629-24G>T
ENST00000668991.1:n.2567-24G>T
ENST00000669432.1:n.9318-24G>T
ENST00000306052.10:c.2854-24G>T	ENSP00000303634.6:n.2854-24G>T
ENST00000347547.6:c.2344-24G>T	ENSP00000334522.2:n.2344-24G>T
ENST00000354412.7:c.2065-24G>T	ENSP00000346391.3:n.2065-24G>T
ENST00000371454.6:c.2677-24G>T	ENSP00000360509.2:n.2677-24G>T
ENST00000465675.5:c.1336-24G>T	ENSP00000437009.1:n.1336-24G>T
ENST00000480045.5:c.*1796-24G>T	ENSP00000433554.1:n.*1796-24G>T
ENST00000529670.5:c.327-24G>T
ENST00000613948.4:c.2062-24G>T	ENSP00000480025.1:n.2062-24G>T
NM_001018054.2:c.2677-24G>T	NP_001018064.1:n.2677-24G>T
NM_004631.4:c.2854-24G>T	NP_004622.2:n.2854-24G>T
NM_017522.4:c.2065-24G>T	NP_059992.3:n.2065-24G>T
NM_033300.3:c.2344-24G>T	NP_150643.2:n.2344-24G>T
XM_005271173.2:c.2893-24G>T	XP_005271230.1:n.2893-24G>T
XM_005271174.2:c.2506-24G>T	XP_005271231.1:n.2506-24G>T
XM_005271175.2:c.2467-24G>T	XP_005271232.1:n.2467-24G>T
XM_006710881.2:c.2716-24G>T	XP_006710944.1:n.2716-24G>T
XM_006710882.2:c.2668-24G>T	XP_006710945.1:n.2668-24G>T
XM_011542094.1:c.2767-24G>T	XP_011540396.1:n.2767-24G>T
XM_011542095.1:c.2377-24G>T	XP_011540397.1:n.2377-24G>T
XM_011542097.1:c.2980-24G>T	XP_011540399.1:n.2980-24G>T
XM_005271173.4:c.2893-24G>T	XP_005271230.1:n.2893-24G>T
XM_005271174.3:c.2506-24G>T	XP_005271231.1:n.2506-24G>T
XM_005271175.3:c.2467-24G>T	XP_005271232.1:n.2467-24G>T
XM_006710881.4:c.2716-24G>T	XP_006710944.1:n.2716-24G>T
XM_006710882.4:c.2668-24G>T	XP_006710945.1:n.2668-24G>T
XM_011542094.2:c.2767-24G>T	XP_011540396.1:n.2767-24G>T
XM_011542095.2:c.2377-24G>T	XP_011540397.1:n.2377-24G>T
XM_017002265.1:c.2728-24G>T	XP_016857754.1:n.2728-24G>T
XM_017002266.2:c.2491-24G>T	XP_016857755.1:n.2491-24G>T
XM_017002267.1:c.1636-24G>T	XP_016857756.1:n.1636-24G>T
XM_017002268.1:c.1636-24G>T	XP_016857757.1:n.1636-24G>T
NM_001018054.3:c.2677-24G>T	NP_001018064.1:n.2677-24G>T
NM_004631.5:c.2854-24G>T MANE Select	NP_004622.2:n.2854-24G>T
NM_017522.5:c.2065-24G>T	NP_059992.3:n.2065-24G>T
NM_033300.4:c.2344-24G>T	NP_150643.2:n.2344-24G>T