Canonical Allele Identifier: CA118585

Gene: LRP8

Linked Data

• ClinVar Variation Id: 6996
• ClinVar RCV Id: RCV000007411
• dbSNP Id: rs5174
• ExAC: 1:53712727 C / T
• gnomAD v2: 1-53712727-C-T
• gnomAD v3: 1-53247055-C-T
• gnomAD v4: 1-53247055-C-T
• MyVariant Identifiers: chr1:g.53712727C>T (hg19) ; chr1:g.53247055C>T (hg38)
• PubMed: PMID:17847002

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247055C>T , CM000663.2:g.53247055C>T	GRCh38
NC_000001.10:g.53712727C>T , CM000663.1:g.53712727C>T	GRCh37
NC_000001.9:g.53485315C>T	NCBI36
NG_011517.2:g.86095G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000306052.12:c.2855G>A MANE Select	ENSP00000303634.6:p.Arg952Gln
ENST00000347547.7:c.2345G>A	ENSP00000334522.2:p.Arg782Gln
ENST00000465675.6:c.2489G>A	ENSP00000437009.2:p.Arg830Gln
ENST00000480045.6:c.*1020G>A	ENSP00000433554.2:n.*1020G>A
ENST00000529670.6:c.393G>A
ENST00000653217.1:c.2390G>A	ENSP00000499777.1:p.Arg797Gln
ENST00000653810.1:c.1576G>A
ENST00000654834.1:n.2315G>A
ENST00000654947.1:c.357G>A	ENSP00000499442.1:p.Ala119=
ENST00000656486.1:c.1985G>A	ENSP00000499708.1:p.Arg662Gln
ENST00000657047.1:c.699G>A
ENST00000657895.1:c.2336G>A	ENSP00000499764.1:p.Arg779Gln
ENST00000658277.1:c.2090G>A	ENSP00000499550.1:p.Arg697Gln
ENST00000658404.1:n.2183G>A
ENST00000661457.1:c.*2074G>A	ENSP00000499547.1:n.*2074G>A
ENST00000662198.1:c.2468G>A	ENSP00000499355.1:p.Arg823Gln
ENST00000662604.1:c.2162G>A	ENSP00000499486.1:p.Arg721Gln
ENST00000662802.1:c.617G>A
ENST00000667377.1:c.2677-1074G>A	ENSP00000499405.1:n.2677-1074G>A
ENST00000668071.1:c.2262G>A
ENST00000668448.1:c.2630G>A	ENSP00000499273.1:p.Arg877Gln
ENST00000668991.1:n.2568G>A
ENST00000669432.1:n.9319G>A
ENST00000306052.10:c.2855G>A	ENSP00000303634.6:p.Arg952Gln
ENST00000347547.6:c.2345G>A	ENSP00000334522.2:p.Arg782Gln
ENST00000354412.7:c.2066G>A	ENSP00000346391.3:p.Arg689Gln
ENST00000371454.6:c.2678G>A	ENSP00000360509.2:p.Arg893Gln
ENST00000465675.5:c.1337G>A	ENSP00000437009.1:p.Arg446Gln
ENST00000480045.5:c.*1797G>A	ENSP00000433554.1:n.*1797G>A
ENST00000529670.5:c.328G>A
ENST00000613948.4:c.2063G>A	ENSP00000480025.1:p.Arg688Gln
NM_001018054.2:c.2678G>A	NP_001018064.1:p.Arg893Gln
NM_004631.4:c.2855G>A	NP_004622.2:p.Arg952Gln
NM_017522.4:c.2066G>A	NP_059992.3:p.Arg689Gln
NM_033300.3:c.2345G>A	NP_150643.2:p.Arg782Gln
XM_005271173.2:c.2894G>A	XP_005271230.1:p.Arg965Gln
XM_005271174.2:c.2507G>A	XP_005271231.1:p.Arg836Gln
XM_005271175.2:c.2468G>A	XP_005271232.1:p.Arg823Gln
XM_006710881.2:c.2717G>A	XP_006710944.1:p.Arg906Gln
XM_006710882.2:c.2669G>A	XP_006710945.1:p.Arg890Gln
XM_011542094.1:c.2768G>A	XP_011540396.1:p.Arg923Gln
XM_011542095.1:c.2378G>A	XP_011540397.1:p.Arg793Gln
XM_011542097.1:c.2981G>A	XP_011540399.1:p.Arg994Gln
XM_005271173.4:c.2894G>A	XP_005271230.1:p.Arg965Gln
XM_005271174.3:c.2507G>A	XP_005271231.1:p.Arg836Gln
XM_005271175.3:c.2468G>A	XP_005271232.1:p.Arg823Gln
XM_006710881.4:c.2717G>A	XP_006710944.1:p.Arg906Gln
XM_006710882.4:c.2669G>A	XP_006710945.1:p.Arg890Gln
XM_011542094.2:c.2768G>A	XP_011540396.1:p.Arg923Gln
XM_011542095.2:c.2378G>A	XP_011540397.1:p.Arg793Gln
XM_017002265.1:c.2729G>A	XP_016857754.1:p.Arg910Gln
XM_017002266.2:c.2492G>A	XP_016857755.1:p.Arg831Gln
XM_017002267.1:c.1637G>A	XP_016857756.1:p.Arg546Gln
XM_017002268.1:c.1637G>A	XP_016857757.1:p.Arg546Gln
NM_001018054.3:c.2678G>A	NP_001018064.1:p.Arg893Gln
NM_004631.5:c.2855G>A MANE Select	NP_004622.2:p.Arg952Gln
NM_017522.5:c.2066G>A	NP_059992.3:p.Arg689Gln
NM_033300.4:c.2345G>A	NP_150643.2:p.Arg782Gln