Canonical Allele Identifier: CA417902695

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712693G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247021G>C , CM000663.2:g.53247021G>C	GRCh38
NC_000001.10:g.53712693G>C , CM000663.1:g.53712693G>C	GRCh37
NC_000001.9:g.53485281G>C	NCBI36
NG_011517.2:g.86129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2889C>G MANE Select	ENSP00000303634.6:p.Pro963=
ENST00000347547.7:c.2379C>G	ENSP00000334522.2:p.Pro793=
ENST00000465675.6:c.2523C>G	ENSP00000437009.2:p.Pro841=
ENST00000480045.6:c.*1054C>G	ENSP00000433554.2:n.*1054C>G
ENST00000529670.6:c.427C>G
ENST00000653217.1:c.2424C>G	ENSP00000499777.1:p.Pro808=
ENST00000653810.1:c.1610C>G
ENST00000654834.1:n.2349C>G
ENST00000654947.1:c.391C>G	ENSP00000499442.1:n.391C>G
ENST00000656486.1:c.2019C>G	ENSP00000499708.1:p.Pro673=
ENST00000657047.1:c.733C>G
ENST00000657895.1:c.2370C>G	ENSP00000499764.1:p.Pro790=
ENST00000658277.1:c.2124C>G	ENSP00000499550.1:p.Pro708=
ENST00000658404.1:n.2217C>G
ENST00000661457.1:c.*2108C>G	ENSP00000499547.1:n.*2108C>G
ENST00000662198.1:c.2502C>G	ENSP00000499355.1:p.Pro834=
ENST00000662604.1:c.2196C>G	ENSP00000499486.1:p.Pro732=
ENST00000662802.1:c.651C>G
ENST00000667377.1:c.2677-1040C>G	ENSP00000499405.1:n.2677-1040C>G
ENST00000668071.1:c.2296C>G
ENST00000668448.1:c.2664C>G	ENSP00000499273.1:p.Pro888=
ENST00000668991.1:n.2602C>G
ENST00000669432.1:n.9353C>G
ENST00000306052.10:c.2889C>G	ENSP00000303634.6:p.Pro963=
ENST00000347547.6:c.2379C>G	ENSP00000334522.2:p.Pro793=
ENST00000354412.7:c.2100C>G	ENSP00000346391.3:p.Pro700=
ENST00000371454.6:c.2712C>G	ENSP00000360509.2:p.Pro904=
ENST00000465675.5:c.1371C>G	ENSP00000437009.1:p.Pro457=
ENST00000480045.5:c.*1831C>G	ENSP00000433554.1:n.*1831C>G
ENST00000529670.5:c.362C>G
ENST00000613948.4:c.2097C>G	ENSP00000480025.1:p.Pro699=
NM_001018054.2:c.2712C>G	NP_001018064.1:p.Pro904=
NM_004631.4:c.2889C>G	NP_004622.2:p.Pro963=
NM_017522.4:c.2100C>G	NP_059992.3:p.Pro700=
NM_033300.3:c.2379C>G	NP_150643.2:p.Pro793=
XM_005271173.2:c.2928C>G	XP_005271230.1:p.Pro976=
XM_005271174.2:c.2541C>G	XP_005271231.1:p.Pro847=
XM_005271175.2:c.2502C>G	XP_005271232.1:p.Pro834=
XM_006710881.2:c.2751C>G	XP_006710944.1:p.Pro917=
XM_006710882.2:c.2703C>G	XP_006710945.1:p.Pro901=
XM_011542094.1:c.2802C>G	XP_011540396.1:p.Pro934=
XM_011542095.1:c.2412C>G	XP_011540397.1:p.Pro804=
XM_011542097.1:c.3015C>G	XP_011540399.1:p.Pro1005=
XM_005271173.4:c.2928C>G	XP_005271230.1:p.Pro976=
XM_005271174.3:c.2541C>G	XP_005271231.1:p.Pro847=
XM_005271175.3:c.2502C>G	XP_005271232.1:p.Pro834=
XM_006710881.4:c.2751C>G	XP_006710944.1:p.Pro917=
XM_006710882.4:c.2703C>G	XP_006710945.1:p.Pro901=
XM_011542094.2:c.2802C>G	XP_011540396.1:p.Pro934=
XM_011542095.2:c.2412C>G	XP_011540397.1:p.Pro804=
XM_017002265.1:c.2763C>G	XP_016857754.1:p.Pro921=
XM_017002266.2:c.2526C>G	XP_016857755.1:p.Pro842=
XM_017002267.1:c.1671C>G	XP_016857756.1:p.Pro557=
XM_017002268.1:c.1671C>G	XP_016857757.1:p.Pro557=
NM_001018054.3:c.2712C>G	NP_001018064.1:p.Pro904=
NM_004631.5:c.2889C>G MANE Select	NP_004622.2:p.Pro963=
NM_017522.5:c.2100C>G	NP_059992.3:p.Pro700=
NM_033300.4:c.2379C>G	NP_150643.2:p.Pro793=