Canonical Allele Identifier: CA340399563

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712713G>C (hg19) ; chr1:g.53247041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247041G>C , CM000663.2:g.53247041G>C	GRCh38
NC_000001.10:g.53712713G>C , CM000663.1:g.53712713G>C	GRCh37
NC_000001.9:g.53485301G>C	NCBI36
NG_011517.2:g.86109C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2869C>G MANE Select	ENSP00000303634.6:p.Leu957Val
ENST00000347547.7:c.2359C>G	ENSP00000334522.2:p.Leu787Val
ENST00000465675.6:c.2503C>G	ENSP00000437009.2:p.Leu835Val
ENST00000480045.6:c.*1034C>G	ENSP00000433554.2:n.*1034C>G
ENST00000529670.6:c.407C>G
ENST00000653217.1:c.2404C>G	ENSP00000499777.1:p.Leu802Val
ENST00000653810.1:c.1590C>G
ENST00000654834.1:n.2329C>G
ENST00000654947.1:c.371C>G	ENSP00000499442.1:p.Pro124Arg
ENST00000656486.1:c.1999C>G	ENSP00000499708.1:p.Leu667Val
ENST00000657047.1:c.713C>G
ENST00000657895.1:c.2350C>G	ENSP00000499764.1:p.Leu784Val
ENST00000658277.1:c.2104C>G	ENSP00000499550.1:p.Leu702Val
ENST00000658404.1:n.2197C>G
ENST00000661457.1:c.*2088C>G	ENSP00000499547.1:n.*2088C>G
ENST00000662198.1:c.2482C>G	ENSP00000499355.1:p.Leu828Val
ENST00000662604.1:c.2176C>G	ENSP00000499486.1:p.Leu726Val
ENST00000662802.1:c.631C>G
ENST00000667377.1:c.2677-1060C>G	ENSP00000499405.1:n.2677-1060C>G
ENST00000668071.1:c.2276C>G
ENST00000668448.1:c.2644C>G	ENSP00000499273.1:p.Leu882Val
ENST00000668991.1:n.2582C>G
ENST00000669432.1:n.9333C>G
ENST00000306052.10:c.2869C>G	ENSP00000303634.6:p.Leu957Val
ENST00000347547.6:c.2359C>G	ENSP00000334522.2:p.Leu787Val
ENST00000354412.7:c.2080C>G	ENSP00000346391.3:p.Leu694Val
ENST00000371454.6:c.2692C>G	ENSP00000360509.2:p.Leu898Val
ENST00000465675.5:c.1351C>G	ENSP00000437009.1:p.Leu451Val
ENST00000480045.5:c.*1811C>G	ENSP00000433554.1:n.*1811C>G
ENST00000529670.5:c.342C>G
ENST00000613948.4:c.2077C>G	ENSP00000480025.1:p.Leu693Val
NM_001018054.2:c.2692C>G	NP_001018064.1:p.Leu898Val
NM_004631.4:c.2869C>G	NP_004622.2:p.Leu957Val
NM_017522.4:c.2080C>G	NP_059992.3:p.Leu694Val
NM_033300.3:c.2359C>G	NP_150643.2:p.Leu787Val
XM_005271173.2:c.2908C>G	XP_005271230.1:p.Leu970Val
XM_005271174.2:c.2521C>G	XP_005271231.1:p.Leu841Val
XM_005271175.2:c.2482C>G	XP_005271232.1:p.Leu828Val
XM_006710881.2:c.2731C>G	XP_006710944.1:p.Leu911Val
XM_006710882.2:c.2683C>G	XP_006710945.1:p.Leu895Val
XM_011542094.1:c.2782C>G	XP_011540396.1:p.Leu928Val
XM_011542095.1:c.2392C>G	XP_011540397.1:p.Leu798Val
XM_011542097.1:c.2995C>G	XP_011540399.1:p.Leu999Val
XM_005271173.4:c.2908C>G	XP_005271230.1:p.Leu970Val
XM_005271174.3:c.2521C>G	XP_005271231.1:p.Leu841Val
XM_005271175.3:c.2482C>G	XP_005271232.1:p.Leu828Val
XM_006710881.4:c.2731C>G	XP_006710944.1:p.Leu911Val
XM_006710882.4:c.2683C>G	XP_006710945.1:p.Leu895Val
XM_011542094.2:c.2782C>G	XP_011540396.1:p.Leu928Val
XM_011542095.2:c.2392C>G	XP_011540397.1:p.Leu798Val
XM_017002265.1:c.2743C>G	XP_016857754.1:p.Leu915Val
XM_017002266.2:c.2506C>G	XP_016857755.1:p.Leu836Val
XM_017002267.1:c.1651C>G	XP_016857756.1:p.Leu551Val
XM_017002268.1:c.1651C>G	XP_016857757.1:p.Leu551Val
NM_001018054.3:c.2692C>G	NP_001018064.1:p.Leu898Val
NM_004631.5:c.2869C>G MANE Select	NP_004622.2:p.Leu957Val
NM_017522.5:c.2080C>G	NP_059992.3:p.Leu694Val
NM_033300.4:c.2359C>G	NP_150643.2:p.Leu787Val