Canonical Allele Identifier: CA2645717388
Gene: LRP8 HGNC NCBI

Linked Data

gnomAD v4: 1-53246978-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53246978G>C , CM000663.2:g.53246978G>C GRCh38
NC_000001.10:g.53712650G>C , CM000663.1:g.53712650G>C GRCh37
NC_000001.9:g.53485238G>C NCBI36
NG_011517.2:g.86172C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306052.12:c.*40C>G MANE Select ENSP00000303634.6:n.*40C>G
ENST00000465675.6:c.2566C>G ENSP00000437009.2:n.2566C>G
ENST00000480045.6:c.*1097C>G ENSP00000433554.2:n.*1097C>G
ENST00000529670.6:c.470C>G
ENST00000653217.1:c.2467C>G ENSP00000499777.1:n.2467C>G
ENST00000653810.1:c.1653C>G
ENST00000654834.1:n.2392C>G
ENST00000654947.1:c.434C>G ENSP00000499442.1:n.434C>G
ENST00000656486.1:c.2062C>G ENSP00000499708.1:n.2062C>G
ENST00000657047.1:c.776C>G
ENST00000657895.1:c.*40C>G ENSP00000499764.1:n.*40C>G
ENST00000658277.1:c.*40C>G ENSP00000499550.1:n.*40C>G
ENST00000658404.1:n.2260C>G
ENST00000661457.1:c.*2151C>G ENSP00000499547.1:n.*2151C>G
ENST00000662198.1:c.*40C>G ENSP00000499355.1:n.*40C>G
ENST00000662604.1:c.*40C>G ENSP00000499486.1:n.*40C>G
ENST00000662802.1:c.694C>G
ENST00000667377.1:c.2677-997C>G ENSP00000499405.1:n.2677-997C>G
ENST00000668071.1:c.2339C>G
ENST00000668448.1:c.*40C>G ENSP00000499273.1:n.*40C>G
ENST00000668991.1:n.2645C>G
ENST00000669432.1:n.9396C>G
ENST00000306052.10:c.*40C>G ENSP00000303634.6:n.*40C>G
ENST00000354412.7:c.2143C>G ENSP00000346391.3:n.2143C>G
ENST00000371454.6:c.*40C>G ENSP00000360509.2:n.*40C>G
ENST00000465675.5:c.*40C>G ENSP00000437009.1:n.*40C>G
ENST00000480045.5:c.*1874C>G ENSP00000433554.1:n.*1874C>G
ENST00000529670.5:c.405C>G
ENST00000613948.4:c.2140C>G ENSP00000480025.1:n.2140C>G
NM_001018054.2:c.*40C>G NP_001018064.1:n.*40C>G
NM_004631.4:c.*40C>G NP_004622.2:n.*40C>G
NM_017522.4:c.*40C>G NP_059992.3:n.*40C>G
NM_033300.3:c.*40C>G NP_150643.2:n.*40C>G
XM_005271173.2:c.*40C>G XP_005271230.1:n.*40C>G
XM_005271174.2:c.*40C>G XP_005271231.1:n.*40C>G
XM_005271175.2:c.*40C>G XP_005271232.1:n.*40C>G
XM_006710881.2:c.*40C>G XP_006710944.1:n.*40C>G
XM_006710882.2:c.*40C>G XP_006710945.1:n.*40C>G
XM_011542094.1:c.*40C>G XP_011540396.1:n.*40C>G
XM_011542095.1:c.*40C>G XP_011540397.1:n.*40C>G
XM_011542097.1:c.*40C>G XP_011540399.1:n.*40C>G
XM_005271173.4:c.*40C>G XP_005271230.1:n.*40C>G
XM_005271174.3:c.*40C>G XP_005271231.1:n.*40C>G
XM_005271175.3:c.*40C>G XP_005271232.1:n.*40C>G
XM_006710881.4:c.*40C>G XP_006710944.1:n.*40C>G
XM_006710882.4:c.*40C>G XP_006710945.1:n.*40C>G
XM_011542094.2:c.*40C>G XP_011540396.1:n.*40C>G
XM_011542095.2:c.*40C>G XP_011540397.1:n.*40C>G
XM_017002265.1:c.*40C>G XP_016857754.1:n.*40C>G
XM_017002266.2:c.*40C>G XP_016857755.1:n.*40C>G
XM_017002267.1:c.*40C>G XP_016857756.1:n.*40C>G
XM_017002268.1:c.*40C>G XP_016857757.1:n.*40C>G
NM_001018054.3:c.*40C>G NP_001018064.1:n.*40C>G
NM_004631.5:c.*40C>G MANE Select NP_004622.2:n.*40C>G
NM_017522.5:c.*40C>G NP_059992.3:n.*40C>G
NM_033300.4:c.*40C>G NP_150643.2:n.*40C>G