Canonical Allele Identifier: CA417902709

Gene: LRP8

Linked Data

• dbSNP Id: rs1158522773
• gnomAD v2: 1-53712711-A-T
• gnomAD v4: 1-53247039-A-T
• MyVariant Identifiers: chr1:g.53712711A>T (hg19) ; chr1:g.53247039A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247039A>T , CM000663.2:g.53247039A>T	GRCh38
NC_000001.10:g.53712711A>T , CM000663.1:g.53712711A>T	GRCh37
NC_000001.9:g.53485299A>T	NCBI36
NG_011517.2:g.86111T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2871T>A MANE Select	ENSP00000303634.6:p.Leu957=
ENST00000347547.7:c.2361T>A	ENSP00000334522.2:p.Leu787=
ENST00000465675.6:c.2505T>A	ENSP00000437009.2:p.Leu835=
ENST00000480045.6:c.*1036T>A	ENSP00000433554.2:n.*1036T>A
ENST00000529670.6:c.409T>A
ENST00000653217.1:c.2406T>A	ENSP00000499777.1:p.Leu802=
ENST00000653810.1:c.1592T>A
ENST00000654834.1:n.2331T>A
ENST00000654947.1:c.373T>A	ENSP00000499442.1:p.Ter125Arg
ENST00000656486.1:c.2001T>A	ENSP00000499708.1:p.Leu667=
ENST00000657047.1:c.715T>A
ENST00000657895.1:c.2352T>A	ENSP00000499764.1:p.Leu784=
ENST00000658277.1:c.2106T>A	ENSP00000499550.1:p.Leu702=
ENST00000658404.1:n.2199T>A
ENST00000661457.1:c.*2090T>A	ENSP00000499547.1:n.*2090T>A
ENST00000662198.1:c.2484T>A	ENSP00000499355.1:p.Leu828=
ENST00000662604.1:c.2178T>A	ENSP00000499486.1:p.Leu726=
ENST00000662802.1:c.633T>A
ENST00000667377.1:c.2677-1058T>A	ENSP00000499405.1:n.2677-1058T>A
ENST00000668071.1:c.2278T>A
ENST00000668448.1:c.2646T>A	ENSP00000499273.1:p.Leu882=
ENST00000668991.1:n.2584T>A
ENST00000669432.1:n.9335T>A
ENST00000306052.10:c.2871T>A	ENSP00000303634.6:p.Leu957=
ENST00000347547.6:c.2361T>A	ENSP00000334522.2:p.Leu787=
ENST00000354412.7:c.2082T>A	ENSP00000346391.3:p.Leu694=
ENST00000371454.6:c.2694T>A	ENSP00000360509.2:p.Leu898=
ENST00000465675.5:c.1353T>A	ENSP00000437009.1:p.Leu451=
ENST00000480045.5:c.*1813T>A	ENSP00000433554.1:n.*1813T>A
ENST00000529670.5:c.344T>A
ENST00000613948.4:c.2079T>A	ENSP00000480025.1:p.Leu693=
NM_001018054.2:c.2694T>A	NP_001018064.1:p.Leu898=
NM_004631.4:c.2871T>A	NP_004622.2:p.Leu957=
NM_017522.4:c.2082T>A	NP_059992.3:p.Leu694=
NM_033300.3:c.2361T>A	NP_150643.2:p.Leu787=
XM_005271173.2:c.2910T>A	XP_005271230.1:p.Leu970=
XM_005271174.2:c.2523T>A	XP_005271231.1:p.Leu841=
XM_005271175.2:c.2484T>A	XP_005271232.1:p.Leu828=
XM_006710881.2:c.2733T>A	XP_006710944.1:p.Leu911=
XM_006710882.2:c.2685T>A	XP_006710945.1:p.Leu895=
XM_011542094.1:c.2784T>A	XP_011540396.1:p.Leu928=
XM_011542095.1:c.2394T>A	XP_011540397.1:p.Leu798=
XM_011542097.1:c.2997T>A	XP_011540399.1:p.Leu999=
XM_005271173.4:c.2910T>A	XP_005271230.1:p.Leu970=
XM_005271174.3:c.2523T>A	XP_005271231.1:p.Leu841=
XM_005271175.3:c.2484T>A	XP_005271232.1:p.Leu828=
XM_006710881.4:c.2733T>A	XP_006710944.1:p.Leu911=
XM_006710882.4:c.2685T>A	XP_006710945.1:p.Leu895=
XM_011542094.2:c.2784T>A	XP_011540396.1:p.Leu928=
XM_011542095.2:c.2394T>A	XP_011540397.1:p.Leu798=
XM_017002265.1:c.2745T>A	XP_016857754.1:p.Leu915=
XM_017002266.2:c.2508T>A	XP_016857755.1:p.Leu836=
XM_017002267.1:c.1653T>A	XP_016857756.1:p.Leu551=
XM_017002268.1:c.1653T>A	XP_016857757.1:p.Leu551=
NM_001018054.3:c.2694T>A	NP_001018064.1:p.Leu898=
NM_004631.5:c.2871T>A MANE Select	NP_004622.2:p.Leu957=
NM_017522.5:c.2082T>A	NP_059992.3:p.Leu694=
NM_033300.4:c.2361T>A	NP_150643.2:p.Leu787=