Canonical Allele Identifier: CA1167228756
Gene: LRP8 HGNC NCBI

Linked Data

dbSNP Id: rs1645745368
gnomAD v4: 1-53246974-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53246974C>A , CM000663.2:g.53246974C>A GRCh38
NC_000001.10:g.53712646C>A , CM000663.1:g.53712646C>A GRCh37
NC_000001.9:g.53485234C>A NCBI36
NG_011517.2:g.86176G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306052.12:c.*44G>T MANE Select ENSP00000303634.6:n.*44G>T
ENST00000465675.6:c.2570G>T ENSP00000437009.2:n.2570G>T
ENST00000480045.6:c.*1101G>T ENSP00000433554.2:n.*1101G>T
ENST00000529670.6:c.474G>T
ENST00000653217.1:c.2471G>T ENSP00000499777.1:n.2471G>T
ENST00000653810.1:c.1657G>T
ENST00000654834.1:n.2396G>T
ENST00000654947.1:c.438G>T ENSP00000499442.1:n.438G>T
ENST00000656486.1:c.2066G>T ENSP00000499708.1:n.2066G>T
ENST00000657047.1:c.780G>T
ENST00000657895.1:c.*44G>T ENSP00000499764.1:n.*44G>T
ENST00000658277.1:c.*44G>T ENSP00000499550.1:n.*44G>T
ENST00000658404.1:n.2264G>T
ENST00000661457.1:c.*2155G>T ENSP00000499547.1:n.*2155G>T
ENST00000662198.1:c.*44G>T ENSP00000499355.1:n.*44G>T
ENST00000662604.1:c.*44G>T ENSP00000499486.1:n.*44G>T
ENST00000662802.1:c.698G>T
ENST00000667377.1:c.2677-993G>T ENSP00000499405.1:n.2677-993G>T
ENST00000668071.1:c.2343G>T
ENST00000668448.1:c.*44G>T ENSP00000499273.1:n.*44G>T
ENST00000668991.1:n.2649G>T
ENST00000669432.1:n.9400G>T
ENST00000306052.10:c.*44G>T ENSP00000303634.6:n.*44G>T
ENST00000354412.7:c.2147G>T ENSP00000346391.3:n.2147G>T
ENST00000371454.6:c.*44G>T ENSP00000360509.2:n.*44G>T
ENST00000465675.5:c.*44G>T ENSP00000437009.1:n.*44G>T
ENST00000480045.5:c.*1878G>T ENSP00000433554.1:n.*1878G>T
ENST00000529670.5:c.409G>T
ENST00000613948.4:c.2144G>T ENSP00000480025.1:n.2144G>T
NM_001018054.2:c.*44G>T NP_001018064.1:n.*44G>T
NM_004631.4:c.*44G>T NP_004622.2:n.*44G>T
NM_017522.4:c.*44G>T NP_059992.3:n.*44G>T
NM_033300.3:c.*44G>T NP_150643.2:n.*44G>T
XM_005271173.2:c.*44G>T XP_005271230.1:n.*44G>T
XM_005271174.2:c.*44G>T XP_005271231.1:n.*44G>T
XM_005271175.2:c.*44G>T XP_005271232.1:n.*44G>T
XM_006710881.2:c.*44G>T XP_006710944.1:n.*44G>T
XM_006710882.2:c.*44G>T XP_006710945.1:n.*44G>T
XM_011542094.1:c.*44G>T XP_011540396.1:n.*44G>T
XM_011542095.1:c.*44G>T XP_011540397.1:n.*44G>T
XM_011542097.1:c.*44G>T XP_011540399.1:n.*44G>T
XM_005271173.4:c.*44G>T XP_005271230.1:n.*44G>T
XM_005271174.3:c.*44G>T XP_005271231.1:n.*44G>T
XM_005271175.3:c.*44G>T XP_005271232.1:n.*44G>T
XM_006710881.4:c.*44G>T XP_006710944.1:n.*44G>T
XM_006710882.4:c.*44G>T XP_006710945.1:n.*44G>T
XM_011542094.2:c.*44G>T XP_011540396.1:n.*44G>T
XM_011542095.2:c.*44G>T XP_011540397.1:n.*44G>T
XM_017002265.1:c.*44G>T XP_016857754.1:n.*44G>T
XM_017002266.2:c.*44G>T XP_016857755.1:n.*44G>T
XM_017002267.1:c.*44G>T XP_016857756.1:n.*44G>T
XM_017002268.1:c.*44G>T XP_016857757.1:n.*44G>T
NM_001018054.3:c.*44G>T NP_001018064.1:n.*44G>T
NM_004631.5:c.*44G>T MANE Select NP_004622.2:n.*44G>T
NM_017522.5:c.*44G>T NP_059992.3:n.*44G>T
NM_033300.4:c.*44G>T NP_150643.2:n.*44G>T