Canonical Allele Identifier: CA340399581

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712716T>C (hg19) ; chr1:g.53247044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247044T>C , CM000663.2:g.53247044T>C	GRCh38
NC_000001.10:g.53712716T>C , CM000663.1:g.53712716T>C	GRCh37
NC_000001.9:g.53485304T>C	NCBI36
NG_011517.2:g.86106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2866A>G MANE Select	ENSP00000303634.6:p.Ser956Gly
ENST00000347547.7:c.2356A>G	ENSP00000334522.2:p.Ser786Gly
ENST00000465675.6:c.2500A>G	ENSP00000437009.2:p.Ser834Gly
ENST00000480045.6:c.*1031A>G	ENSP00000433554.2:n.*1031A>G
ENST00000529670.6:c.404A>G
ENST00000653217.1:c.2401A>G	ENSP00000499777.1:p.Ser801Gly
ENST00000653810.1:c.1587A>G
ENST00000654834.1:n.2326A>G
ENST00000654947.1:c.368A>G	ENSP00000499442.1:p.Lys123Arg
ENST00000656486.1:c.1996A>G	ENSP00000499708.1:p.Ser666Gly
ENST00000657047.1:c.710A>G
ENST00000657895.1:c.2347A>G	ENSP00000499764.1:p.Ser783Gly
ENST00000658277.1:c.2101A>G	ENSP00000499550.1:p.Ser701Gly
ENST00000658404.1:n.2194A>G
ENST00000661457.1:c.*2085A>G	ENSP00000499547.1:n.*2085A>G
ENST00000662198.1:c.2479A>G	ENSP00000499355.1:p.Ser827Gly
ENST00000662604.1:c.2173A>G	ENSP00000499486.1:p.Ser725Gly
ENST00000662802.1:c.628A>G
ENST00000667377.1:c.2677-1063A>G	ENSP00000499405.1:n.2677-1063A>G
ENST00000668071.1:c.2273A>G
ENST00000668448.1:c.2641A>G	ENSP00000499273.1:p.Ser881Gly
ENST00000668991.1:n.2579A>G
ENST00000669432.1:n.9330A>G
ENST00000306052.10:c.2866A>G	ENSP00000303634.6:p.Ser956Gly
ENST00000347547.6:c.2356A>G	ENSP00000334522.2:p.Ser786Gly
ENST00000354412.7:c.2077A>G	ENSP00000346391.3:p.Ser693Gly
ENST00000371454.6:c.2689A>G	ENSP00000360509.2:p.Ser897Gly
ENST00000465675.5:c.1348A>G	ENSP00000437009.1:p.Ser450Gly
ENST00000480045.5:c.*1808A>G	ENSP00000433554.1:n.*1808A>G
ENST00000529670.5:c.339A>G
ENST00000613948.4:c.2074A>G	ENSP00000480025.1:p.Ser692Gly
NM_001018054.2:c.2689A>G	NP_001018064.1:p.Ser897Gly
NM_004631.4:c.2866A>G	NP_004622.2:p.Ser956Gly
NM_017522.4:c.2077A>G	NP_059992.3:p.Ser693Gly
NM_033300.3:c.2356A>G	NP_150643.2:p.Ser786Gly
XM_005271173.2:c.2905A>G	XP_005271230.1:p.Ser969Gly
XM_005271174.2:c.2518A>G	XP_005271231.1:p.Ser840Gly
XM_005271175.2:c.2479A>G	XP_005271232.1:p.Ser827Gly
XM_006710881.2:c.2728A>G	XP_006710944.1:p.Ser910Gly
XM_006710882.2:c.2680A>G	XP_006710945.1:p.Ser894Gly
XM_011542094.1:c.2779A>G	XP_011540396.1:p.Ser927Gly
XM_011542095.1:c.2389A>G	XP_011540397.1:p.Ser797Gly
XM_011542097.1:c.2992A>G	XP_011540399.1:p.Ser998Gly
XM_005271173.4:c.2905A>G	XP_005271230.1:p.Ser969Gly
XM_005271174.3:c.2518A>G	XP_005271231.1:p.Ser840Gly
XM_005271175.3:c.2479A>G	XP_005271232.1:p.Ser827Gly
XM_006710881.4:c.2728A>G	XP_006710944.1:p.Ser910Gly
XM_006710882.4:c.2680A>G	XP_006710945.1:p.Ser894Gly
XM_011542094.2:c.2779A>G	XP_011540396.1:p.Ser927Gly
XM_011542095.2:c.2389A>G	XP_011540397.1:p.Ser797Gly
XM_017002265.1:c.2740A>G	XP_016857754.1:p.Ser914Gly
XM_017002266.2:c.2503A>G	XP_016857755.1:p.Ser835Gly
XM_017002267.1:c.1648A>G	XP_016857756.1:p.Ser550Gly
XM_017002268.1:c.1648A>G	XP_016857757.1:p.Ser550Gly
NM_001018054.3:c.2689A>G	NP_001018064.1:p.Ser897Gly
NM_004631.5:c.2866A>G MANE Select	NP_004622.2:p.Ser956Gly
NM_017522.5:c.2077A>G	NP_059992.3:p.Ser693Gly
NM_033300.4:c.2356A>G	NP_150643.2:p.Ser786Gly