Canonical Allele Identifier: CA340399548

Gene: LRP8

Linked Data

• dbSNP Id: rs1419723981
• gnomAD v2: 1-53712710-C-A
• gnomAD v4: 1-53247038-C-A
• MyVariant Identifiers: chr1:g.53712710C>A (hg19) ; chr1:g.53247038C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247038C>A , CM000663.2:g.53247038C>A	GRCh38
NC_000001.10:g.53712710C>A , CM000663.1:g.53712710C>A	GRCh37
NC_000001.9:g.53485298C>A	NCBI36
NG_011517.2:g.86112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2872G>T MANE Select	ENSP00000303634.6:p.Glu958Ter
ENST00000347547.7:c.2362G>T	ENSP00000334522.2:p.Glu788Ter
ENST00000465675.6:c.2506G>T	ENSP00000437009.2:p.Glu836Ter
ENST00000480045.6:c.*1037G>T	ENSP00000433554.2:n.*1037G>T
ENST00000529670.6:c.410G>T
ENST00000653217.1:c.2407G>T	ENSP00000499777.1:p.Glu803Ter
ENST00000653810.1:c.1593G>T
ENST00000654834.1:n.2332G>T
ENST00000654947.1:c.374G>T	ENSP00000499442.1:p.Ter125Leu
ENST00000656486.1:c.2002G>T	ENSP00000499708.1:p.Glu668Ter
ENST00000657047.1:c.716G>T
ENST00000657895.1:c.2353G>T	ENSP00000499764.1:p.Glu785Ter
ENST00000658277.1:c.2107G>T	ENSP00000499550.1:p.Glu703Ter
ENST00000658404.1:n.2200G>T
ENST00000661457.1:c.*2091G>T	ENSP00000499547.1:n.*2091G>T
ENST00000662198.1:c.2485G>T	ENSP00000499355.1:p.Glu829Ter
ENST00000662604.1:c.2179G>T	ENSP00000499486.1:p.Glu727Ter
ENST00000662802.1:c.634G>T
ENST00000667377.1:c.2677-1057G>T	ENSP00000499405.1:n.2677-1057G>T
ENST00000668071.1:c.2279G>T
ENST00000668448.1:c.2647G>T	ENSP00000499273.1:p.Glu883Ter
ENST00000668991.1:n.2585G>T
ENST00000669432.1:n.9336G>T
ENST00000306052.10:c.2872G>T	ENSP00000303634.6:p.Glu958Ter
ENST00000347547.6:c.2362G>T	ENSP00000334522.2:p.Glu788Ter
ENST00000354412.7:c.2083G>T	ENSP00000346391.3:p.Glu695Ter
ENST00000371454.6:c.2695G>T	ENSP00000360509.2:p.Glu899Ter
ENST00000465675.5:c.1354G>T	ENSP00000437009.1:p.Glu452Ter
ENST00000480045.5:c.*1814G>T	ENSP00000433554.1:n.*1814G>T
ENST00000529670.5:c.345G>T
ENST00000613948.4:c.2080G>T	ENSP00000480025.1:p.Glu694Ter
NM_001018054.2:c.2695G>T	NP_001018064.1:p.Glu899Ter
NM_004631.4:c.2872G>T	NP_004622.2:p.Glu958Ter
NM_017522.4:c.2083G>T	NP_059992.3:p.Glu695Ter
NM_033300.3:c.2362G>T	NP_150643.2:p.Glu788Ter
XM_005271173.2:c.2911G>T	XP_005271230.1:p.Glu971Ter
XM_005271174.2:c.2524G>T	XP_005271231.1:p.Glu842Ter
XM_005271175.2:c.2485G>T	XP_005271232.1:p.Glu829Ter
XM_006710881.2:c.2734G>T	XP_006710944.1:p.Glu912Ter
XM_006710882.2:c.2686G>T	XP_006710945.1:p.Glu896Ter
XM_011542094.1:c.2785G>T	XP_011540396.1:p.Glu929Ter
XM_011542095.1:c.2395G>T	XP_011540397.1:p.Glu799Ter
XM_011542097.1:c.2998G>T	XP_011540399.1:p.Glu1000Ter
XM_005271173.4:c.2911G>T	XP_005271230.1:p.Glu971Ter
XM_005271174.3:c.2524G>T	XP_005271231.1:p.Glu842Ter
XM_005271175.3:c.2485G>T	XP_005271232.1:p.Glu829Ter
XM_006710881.4:c.2734G>T	XP_006710944.1:p.Glu912Ter
XM_006710882.4:c.2686G>T	XP_006710945.1:p.Glu896Ter
XM_011542094.2:c.2785G>T	XP_011540396.1:p.Glu929Ter
XM_011542095.2:c.2395G>T	XP_011540397.1:p.Glu799Ter
XM_017002265.1:c.2746G>T	XP_016857754.1:p.Glu916Ter
XM_017002266.2:c.2509G>T	XP_016857755.1:p.Glu837Ter
XM_017002267.1:c.1654G>T	XP_016857756.1:p.Glu552Ter
XM_017002268.1:c.1654G>T	XP_016857757.1:p.Glu552Ter
NM_001018054.3:c.2695G>T	NP_001018064.1:p.Glu899Ter
NM_004631.5:c.2872G>T MANE Select	NP_004622.2:p.Glu958Ter
NM_017522.5:c.2083G>T	NP_059992.3:p.Glu695Ter
NM_033300.4:c.2362G>T	NP_150643.2:p.Glu788Ter