Canonical Allele Identifier: CA340399515

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712703T>C (hg19) ; chr1:g.53247031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247031T>C , CM000663.2:g.53247031T>C	GRCh38
NC_000001.10:g.53712703T>C , CM000663.1:g.53712703T>C	GRCh37
NC_000001.9:g.53485291T>C	NCBI36
NG_011517.2:g.86119A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2879A>G MANE Select	ENSP00000303634.6:p.Asp960Gly
ENST00000347547.7:c.2369A>G	ENSP00000334522.2:p.Asp790Gly
ENST00000465675.6:c.2513A>G	ENSP00000437009.2:p.Asp838Gly
ENST00000480045.6:c.*1044A>G	ENSP00000433554.2:n.*1044A>G
ENST00000529670.6:c.417A>G
ENST00000653217.1:c.2414A>G	ENSP00000499777.1:p.Asp805Gly
ENST00000653810.1:c.1600A>G
ENST00000654834.1:n.2339A>G
ENST00000654947.1:c.381A>G	ENSP00000499442.1:n.381A>G
ENST00000656486.1:c.2009A>G	ENSP00000499708.1:p.Asp670Gly
ENST00000657047.1:c.723A>G
ENST00000657895.1:c.2360A>G	ENSP00000499764.1:p.Asp787Gly
ENST00000658277.1:c.2114A>G	ENSP00000499550.1:p.Asp705Gly
ENST00000658404.1:n.2207A>G
ENST00000661457.1:c.*2098A>G	ENSP00000499547.1:n.*2098A>G
ENST00000662198.1:c.2492A>G	ENSP00000499355.1:p.Asp831Gly
ENST00000662604.1:c.2186A>G	ENSP00000499486.1:p.Asp729Gly
ENST00000662802.1:c.641A>G
ENST00000667377.1:c.2677-1050A>G	ENSP00000499405.1:n.2677-1050A>G
ENST00000668071.1:c.2286A>G
ENST00000668448.1:c.2654A>G	ENSP00000499273.1:p.Asp885Gly
ENST00000668991.1:n.2592A>G
ENST00000669432.1:n.9343A>G
ENST00000306052.10:c.2879A>G	ENSP00000303634.6:p.Asp960Gly
ENST00000347547.6:c.2369A>G	ENSP00000334522.2:p.Asp790Gly
ENST00000354412.7:c.2090A>G	ENSP00000346391.3:p.Asp697Gly
ENST00000371454.6:c.2702A>G	ENSP00000360509.2:p.Asp901Gly
ENST00000465675.5:c.1361A>G	ENSP00000437009.1:p.Asp454Gly
ENST00000480045.5:c.*1821A>G	ENSP00000433554.1:n.*1821A>G
ENST00000529670.5:c.352A>G
ENST00000613948.4:c.2087A>G	ENSP00000480025.1:p.Asp696Gly
NM_001018054.2:c.2702A>G	NP_001018064.1:p.Asp901Gly
NM_004631.4:c.2879A>G	NP_004622.2:p.Asp960Gly
NM_017522.4:c.2090A>G	NP_059992.3:p.Asp697Gly
NM_033300.3:c.2369A>G	NP_150643.2:p.Asp790Gly
XM_005271173.2:c.2918A>G	XP_005271230.1:p.Asp973Gly
XM_005271174.2:c.2531A>G	XP_005271231.1:p.Asp844Gly
XM_005271175.2:c.2492A>G	XP_005271232.1:p.Asp831Gly
XM_006710881.2:c.2741A>G	XP_006710944.1:p.Asp914Gly
XM_006710882.2:c.2693A>G	XP_006710945.1:p.Asp898Gly
XM_011542094.1:c.2792A>G	XP_011540396.1:p.Asp931Gly
XM_011542095.1:c.2402A>G	XP_011540397.1:p.Asp801Gly
XM_011542097.1:c.3005A>G	XP_011540399.1:p.Asp1002Gly
XM_005271173.4:c.2918A>G	XP_005271230.1:p.Asp973Gly
XM_005271174.3:c.2531A>G	XP_005271231.1:p.Asp844Gly
XM_005271175.3:c.2492A>G	XP_005271232.1:p.Asp831Gly
XM_006710881.4:c.2741A>G	XP_006710944.1:p.Asp914Gly
XM_006710882.4:c.2693A>G	XP_006710945.1:p.Asp898Gly
XM_011542094.2:c.2792A>G	XP_011540396.1:p.Asp931Gly
XM_011542095.2:c.2402A>G	XP_011540397.1:p.Asp801Gly
XM_017002265.1:c.2753A>G	XP_016857754.1:p.Asp918Gly
XM_017002266.2:c.2516A>G	XP_016857755.1:p.Asp839Gly
XM_017002267.1:c.1661A>G	XP_016857756.1:p.Asp554Gly
XM_017002268.1:c.1661A>G	XP_016857757.1:p.Asp554Gly
NM_001018054.3:c.2702A>G	NP_001018064.1:p.Asp901Gly
NM_004631.5:c.2879A>G MANE Select	NP_004622.2:p.Asp960Gly
NM_017522.5:c.2090A>G	NP_059992.3:p.Asp697Gly
NM_033300.4:c.2369A>G	NP_150643.2:p.Asp790Gly