Canonical Allele Identifier: CA417902713

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712720T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247048T>C , CM000663.2:g.53247048T>C	GRCh38
NC_000001.10:g.53712720T>C , CM000663.1:g.53712720T>C	GRCh37
NC_000001.9:g.53485308T>C	NCBI36
NG_011517.2:g.86102A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2862A>G MANE Select	ENSP00000303634.6:p.Ala954=
ENST00000347547.7:c.2352A>G	ENSP00000334522.2:p.Ala784=
ENST00000465675.6:c.2496A>G	ENSP00000437009.2:p.Ala832=
ENST00000480045.6:c.*1027A>G	ENSP00000433554.2:n.*1027A>G
ENST00000529670.6:c.400A>G
ENST00000653217.1:c.2397A>G	ENSP00000499777.1:p.Ala799=
ENST00000653810.1:c.1583A>G
ENST00000654834.1:n.2322A>G
ENST00000654947.1:c.364A>G	ENSP00000499442.1:p.Ile122Val
ENST00000656486.1:c.1992A>G	ENSP00000499708.1:p.Ala664=
ENST00000657047.1:c.706A>G
ENST00000657895.1:c.2343A>G	ENSP00000499764.1:p.Ala781=
ENST00000658277.1:c.2097A>G	ENSP00000499550.1:p.Ala699=
ENST00000658404.1:n.2190A>G
ENST00000661457.1:c.*2081A>G	ENSP00000499547.1:n.*2081A>G
ENST00000662198.1:c.2475A>G	ENSP00000499355.1:p.Ala825=
ENST00000662604.1:c.2169A>G	ENSP00000499486.1:p.Ala723=
ENST00000662802.1:c.624A>G
ENST00000667377.1:c.2677-1067A>G	ENSP00000499405.1:n.2677-1067A>G
ENST00000668071.1:c.2269A>G
ENST00000668448.1:c.2637A>G	ENSP00000499273.1:p.Ala879=
ENST00000668991.1:n.2575A>G
ENST00000669432.1:n.9326A>G
ENST00000306052.10:c.2862A>G	ENSP00000303634.6:p.Ala954=
ENST00000347547.6:c.2352A>G	ENSP00000334522.2:p.Ala784=
ENST00000354412.7:c.2073A>G	ENSP00000346391.3:p.Ala691=
ENST00000371454.6:c.2685A>G	ENSP00000360509.2:p.Ala895=
ENST00000465675.5:c.1344A>G	ENSP00000437009.1:p.Ala448=
ENST00000480045.5:c.*1804A>G	ENSP00000433554.1:n.*1804A>G
ENST00000529670.5:c.335A>G
ENST00000613948.4:c.2070A>G	ENSP00000480025.1:p.Ala690=
NM_001018054.2:c.2685A>G	NP_001018064.1:p.Ala895=
NM_004631.4:c.2862A>G	NP_004622.2:p.Ala954=
NM_017522.4:c.2073A>G	NP_059992.3:p.Ala691=
NM_033300.3:c.2352A>G	NP_150643.2:p.Ala784=
XM_005271173.2:c.2901A>G	XP_005271230.1:p.Ala967=
XM_005271174.2:c.2514A>G	XP_005271231.1:p.Ala838=
XM_005271175.2:c.2475A>G	XP_005271232.1:p.Ala825=
XM_006710881.2:c.2724A>G	XP_006710944.1:p.Ala908=
XM_006710882.2:c.2676A>G	XP_006710945.1:p.Ala892=
XM_011542094.1:c.2775A>G	XP_011540396.1:p.Ala925=
XM_011542095.1:c.2385A>G	XP_011540397.1:p.Ala795=
XM_011542097.1:c.2988A>G	XP_011540399.1:p.Ala996=
XM_005271173.4:c.2901A>G	XP_005271230.1:p.Ala967=
XM_005271174.3:c.2514A>G	XP_005271231.1:p.Ala838=
XM_005271175.3:c.2475A>G	XP_005271232.1:p.Ala825=
XM_006710881.4:c.2724A>G	XP_006710944.1:p.Ala908=
XM_006710882.4:c.2676A>G	XP_006710945.1:p.Ala892=
XM_011542094.2:c.2775A>G	XP_011540396.1:p.Ala925=
XM_011542095.2:c.2385A>G	XP_011540397.1:p.Ala795=
XM_017002265.1:c.2736A>G	XP_016857754.1:p.Ala912=
XM_017002266.2:c.2499A>G	XP_016857755.1:p.Ala833=
XM_017002267.1:c.1644A>G	XP_016857756.1:p.Ala548=
XM_017002268.1:c.1644A>G	XP_016857757.1:p.Ala548=
NM_001018054.3:c.2685A>G	NP_001018064.1:p.Ala895=
NM_004631.5:c.2862A>G MANE Select	NP_004622.2:p.Ala954=
NM_017522.5:c.2073A>G	NP_059992.3:p.Ala691=
NM_033300.4:c.2352A>G	NP_150643.2:p.Ala784=