Canonical Allele Identifier: CA417902698

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712696T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247024T>G , CM000663.2:g.53247024T>G	GRCh38
NC_000001.10:g.53712696T>G , CM000663.1:g.53712696T>G	GRCh37
NC_000001.9:g.53485284T>G	NCBI36
NG_011517.2:g.86126A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2886A>C MANE Select	ENSP00000303634.6:p.Leu962=
ENST00000347547.7:c.2376A>C	ENSP00000334522.2:p.Leu792=
ENST00000465675.6:c.2520A>C	ENSP00000437009.2:p.Leu840=
ENST00000480045.6:c.*1051A>C	ENSP00000433554.2:n.*1051A>C
ENST00000529670.6:c.424A>C
ENST00000653217.1:c.2421A>C	ENSP00000499777.1:p.Leu807=
ENST00000653810.1:c.1607A>C
ENST00000654834.1:n.2346A>C
ENST00000654947.1:c.388A>C	ENSP00000499442.1:n.388A>C
ENST00000656486.1:c.2016A>C	ENSP00000499708.1:p.Leu672=
ENST00000657047.1:c.730A>C
ENST00000657895.1:c.2367A>C	ENSP00000499764.1:p.Leu789=
ENST00000658277.1:c.2121A>C	ENSP00000499550.1:p.Leu707=
ENST00000658404.1:n.2214A>C
ENST00000661457.1:c.*2105A>C	ENSP00000499547.1:n.*2105A>C
ENST00000662198.1:c.2499A>C	ENSP00000499355.1:p.Leu833=
ENST00000662604.1:c.2193A>C	ENSP00000499486.1:p.Leu731=
ENST00000662802.1:c.648A>C
ENST00000667377.1:c.2677-1043A>C	ENSP00000499405.1:n.2677-1043A>C
ENST00000668071.1:c.2293A>C
ENST00000668448.1:c.2661A>C	ENSP00000499273.1:p.Leu887=
ENST00000668991.1:n.2599A>C
ENST00000669432.1:n.9350A>C
ENST00000306052.10:c.2886A>C	ENSP00000303634.6:p.Leu962=
ENST00000347547.6:c.2376A>C	ENSP00000334522.2:p.Leu792=
ENST00000354412.7:c.2097A>C	ENSP00000346391.3:p.Leu699=
ENST00000371454.6:c.2709A>C	ENSP00000360509.2:p.Leu903=
ENST00000465675.5:c.1368A>C	ENSP00000437009.1:p.Leu456=
ENST00000480045.5:c.*1828A>C	ENSP00000433554.1:n.*1828A>C
ENST00000529670.5:c.359A>C
ENST00000613948.4:c.2094A>C	ENSP00000480025.1:p.Leu698=
NM_001018054.2:c.2709A>C	NP_001018064.1:p.Leu903=
NM_004631.4:c.2886A>C	NP_004622.2:p.Leu962=
NM_017522.4:c.2097A>C	NP_059992.3:p.Leu699=
NM_033300.3:c.2376A>C	NP_150643.2:p.Leu792=
XM_005271173.2:c.2925A>C	XP_005271230.1:p.Leu975=
XM_005271174.2:c.2538A>C	XP_005271231.1:p.Leu846=
XM_005271175.2:c.2499A>C	XP_005271232.1:p.Leu833=
XM_006710881.2:c.2748A>C	XP_006710944.1:p.Leu916=
XM_006710882.2:c.2700A>C	XP_006710945.1:p.Leu900=
XM_011542094.1:c.2799A>C	XP_011540396.1:p.Leu933=
XM_011542095.1:c.2409A>C	XP_011540397.1:p.Leu803=
XM_011542097.1:c.3012A>C	XP_011540399.1:p.Leu1004=
XM_005271173.4:c.2925A>C	XP_005271230.1:p.Leu975=
XM_005271174.3:c.2538A>C	XP_005271231.1:p.Leu846=
XM_005271175.3:c.2499A>C	XP_005271232.1:p.Leu833=
XM_006710881.4:c.2748A>C	XP_006710944.1:p.Leu916=
XM_006710882.4:c.2700A>C	XP_006710945.1:p.Leu900=
XM_011542094.2:c.2799A>C	XP_011540396.1:p.Leu933=
XM_011542095.2:c.2409A>C	XP_011540397.1:p.Leu803=
XM_017002265.1:c.2760A>C	XP_016857754.1:p.Leu920=
XM_017002266.2:c.2523A>C	XP_016857755.1:p.Leu841=
XM_017002267.1:c.1668A>C	XP_016857756.1:p.Leu556=
XM_017002268.1:c.1668A>C	XP_016857757.1:p.Leu556=
NM_001018054.3:c.2709A>C	NP_001018064.1:p.Leu903=
NM_004631.5:c.2886A>C MANE Select	NP_004622.2:p.Leu962=
NM_017522.5:c.2097A>C	NP_059992.3:p.Leu699=
NM_033300.4:c.2376A>C	NP_150643.2:p.Leu792=