Canonical Allele Identifier: CA340399633

Gene: LRP8

Linked Data

• gnomAD v4: 1-53247056-G-C
• MyVariant Identifiers: chr1:g.53712728G>C (hg19) ; chr1:g.53247056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247056G>C , CM000663.2:g.53247056G>C	GRCh38
NC_000001.10:g.53712728G>C , CM000663.1:g.53712728G>C	GRCh37
NC_000001.9:g.53485316G>C	NCBI36
NG_011517.2:g.86094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2854C>G MANE Select	ENSP00000303634.6:p.Arg952Gly
ENST00000347547.7:c.2344C>G	ENSP00000334522.2:p.Arg782Gly
ENST00000465675.6:c.2488C>G	ENSP00000437009.2:p.Arg830Gly
ENST00000480045.6:c.*1019C>G	ENSP00000433554.2:n.*1019C>G
ENST00000529670.6:c.392C>G
ENST00000653217.1:c.2389C>G	ENSP00000499777.1:p.Arg797Gly
ENST00000653810.1:c.1575C>G
ENST00000654834.1:n.2314C>G
ENST00000654947.1:c.356C>G	ENSP00000499442.1:p.Ala119Gly
ENST00000656486.1:c.1984C>G	ENSP00000499708.1:p.Arg662Gly
ENST00000657047.1:c.698C>G
ENST00000657895.1:c.2335C>G	ENSP00000499764.1:p.Arg779Gly
ENST00000658277.1:c.2089C>G	ENSP00000499550.1:p.Arg697Gly
ENST00000658404.1:n.2182C>G
ENST00000661457.1:c.*2073C>G	ENSP00000499547.1:n.*2073C>G
ENST00000662198.1:c.2467C>G	ENSP00000499355.1:p.Arg823Gly
ENST00000662604.1:c.2161C>G	ENSP00000499486.1:p.Arg721Gly
ENST00000662802.1:c.616C>G
ENST00000667377.1:c.2677-1075C>G	ENSP00000499405.1:n.2677-1075C>G
ENST00000668071.1:c.2261C>G
ENST00000668448.1:c.2629C>G	ENSP00000499273.1:p.Arg877Gly
ENST00000668991.1:n.2567C>G
ENST00000669432.1:n.9318C>G
ENST00000306052.10:c.2854C>G	ENSP00000303634.6:p.Arg952Gly
ENST00000347547.6:c.2344C>G	ENSP00000334522.2:p.Arg782Gly
ENST00000354412.7:c.2065C>G	ENSP00000346391.3:p.Arg689Gly
ENST00000371454.6:c.2677C>G	ENSP00000360509.2:p.Arg893Gly
ENST00000465675.5:c.1336C>G	ENSP00000437009.1:p.Arg446Gly
ENST00000480045.5:c.*1796C>G	ENSP00000433554.1:n.*1796C>G
ENST00000529670.5:c.327C>G
ENST00000613948.4:c.2062C>G	ENSP00000480025.1:p.Arg688Gly
NM_001018054.2:c.2677C>G	NP_001018064.1:p.Arg893Gly
NM_004631.4:c.2854C>G	NP_004622.2:p.Arg952Gly
NM_017522.4:c.2065C>G	NP_059992.3:p.Arg689Gly
NM_033300.3:c.2344C>G	NP_150643.2:p.Arg782Gly
XM_005271173.2:c.2893C>G	XP_005271230.1:p.Arg965Gly
XM_005271174.2:c.2506C>G	XP_005271231.1:p.Arg836Gly
XM_005271175.2:c.2467C>G	XP_005271232.1:p.Arg823Gly
XM_006710881.2:c.2716C>G	XP_006710944.1:p.Arg906Gly
XM_006710882.2:c.2668C>G	XP_006710945.1:p.Arg890Gly
XM_011542094.1:c.2767C>G	XP_011540396.1:p.Arg923Gly
XM_011542095.1:c.2377C>G	XP_011540397.1:p.Arg793Gly
XM_011542097.1:c.2980C>G	XP_011540399.1:p.Arg994Gly
XM_005271173.4:c.2893C>G	XP_005271230.1:p.Arg965Gly
XM_005271174.3:c.2506C>G	XP_005271231.1:p.Arg836Gly
XM_005271175.3:c.2467C>G	XP_005271232.1:p.Arg823Gly
XM_006710881.4:c.2716C>G	XP_006710944.1:p.Arg906Gly
XM_006710882.4:c.2668C>G	XP_006710945.1:p.Arg890Gly
XM_011542094.2:c.2767C>G	XP_011540396.1:p.Arg923Gly
XM_011542095.2:c.2377C>G	XP_011540397.1:p.Arg793Gly
XM_017002265.1:c.2728C>G	XP_016857754.1:p.Arg910Gly
XM_017002266.2:c.2491C>G	XP_016857755.1:p.Arg831Gly
XM_017002267.1:c.1636C>G	XP_016857756.1:p.Arg546Gly
XM_017002268.1:c.1636C>G	XP_016857757.1:p.Arg546Gly
NM_001018054.3:c.2677C>G	NP_001018064.1:p.Arg893Gly
NM_004631.5:c.2854C>G MANE Select	NP_004622.2:p.Arg952Gly
NM_017522.5:c.2065C>G	NP_059992.3:p.Arg689Gly
NM_033300.4:c.2344C>G	NP_150643.2:p.Arg782Gly