Canonical Allele Identifier: CA340399622

Gene: LRP8

Linked Data

• gnomAD v4: 1-53247053-C-T
• MyVariant Identifiers: chr1:g.53712725C>T (hg19) ; chr1:g.53247053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247053C>T , CM000663.2:g.53247053C>T	GRCh38
NC_000001.10:g.53712725C>T , CM000663.1:g.53712725C>T	GRCh37
NC_000001.9:g.53485313C>T	NCBI36
NG_011517.2:g.86097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2857G>A MANE Select	ENSP00000303634.6:p.Val953Met
ENST00000347547.7:c.2347G>A	ENSP00000334522.2:p.Val783Met
ENST00000465675.6:c.2491G>A	ENSP00000437009.2:p.Val831Met
ENST00000480045.6:c.*1022G>A	ENSP00000433554.2:n.*1022G>A
ENST00000529670.6:c.395G>A
ENST00000653217.1:c.2392G>A	ENSP00000499777.1:p.Val798Met
ENST00000653810.1:c.1578G>A
ENST00000654834.1:n.2317G>A
ENST00000654947.1:c.359G>A	ENSP00000499442.1:p.Ser120Asn
ENST00000656486.1:c.1987G>A	ENSP00000499708.1:p.Val663Met
ENST00000657047.1:c.701G>A
ENST00000657895.1:c.2338G>A	ENSP00000499764.1:p.Val780Met
ENST00000658277.1:c.2092G>A	ENSP00000499550.1:p.Val698Met
ENST00000658404.1:n.2185G>A
ENST00000661457.1:c.*2076G>A	ENSP00000499547.1:n.*2076G>A
ENST00000662198.1:c.2470G>A	ENSP00000499355.1:p.Val824Met
ENST00000662604.1:c.2164G>A	ENSP00000499486.1:p.Val722Met
ENST00000662802.1:c.619G>A
ENST00000667377.1:c.2677-1072G>A	ENSP00000499405.1:n.2677-1072G>A
ENST00000668071.1:c.2264G>A
ENST00000668448.1:c.2632G>A	ENSP00000499273.1:p.Val878Met
ENST00000668991.1:n.2570G>A
ENST00000669432.1:n.9321G>A
ENST00000306052.10:c.2857G>A	ENSP00000303634.6:p.Val953Met
ENST00000347547.6:c.2347G>A	ENSP00000334522.2:p.Val783Met
ENST00000354412.7:c.2068G>A	ENSP00000346391.3:p.Val690Met
ENST00000371454.6:c.2680G>A	ENSP00000360509.2:p.Val894Met
ENST00000465675.5:c.1339G>A	ENSP00000437009.1:p.Val447Met
ENST00000480045.5:c.*1799G>A	ENSP00000433554.1:n.*1799G>A
ENST00000529670.5:c.330G>A
ENST00000613948.4:c.2065G>A	ENSP00000480025.1:p.Val689Met
NM_001018054.2:c.2680G>A	NP_001018064.1:p.Val894Met
NM_004631.4:c.2857G>A	NP_004622.2:p.Val953Met
NM_017522.4:c.2068G>A	NP_059992.3:p.Val690Met
NM_033300.3:c.2347G>A	NP_150643.2:p.Val783Met
XM_005271173.2:c.2896G>A	XP_005271230.1:p.Val966Met
XM_005271174.2:c.2509G>A	XP_005271231.1:p.Val837Met
XM_005271175.2:c.2470G>A	XP_005271232.1:p.Val824Met
XM_006710881.2:c.2719G>A	XP_006710944.1:p.Val907Met
XM_006710882.2:c.2671G>A	XP_006710945.1:p.Val891Met
XM_011542094.1:c.2770G>A	XP_011540396.1:p.Val924Met
XM_011542095.1:c.2380G>A	XP_011540397.1:p.Val794Met
XM_011542097.1:c.2983G>A	XP_011540399.1:p.Val995Met
XM_005271173.4:c.2896G>A	XP_005271230.1:p.Val966Met
XM_005271174.3:c.2509G>A	XP_005271231.1:p.Val837Met
XM_005271175.3:c.2470G>A	XP_005271232.1:p.Val824Met
XM_006710881.4:c.2719G>A	XP_006710944.1:p.Val907Met
XM_006710882.4:c.2671G>A	XP_006710945.1:p.Val891Met
XM_011542094.2:c.2770G>A	XP_011540396.1:p.Val924Met
XM_011542095.2:c.2380G>A	XP_011540397.1:p.Val794Met
XM_017002265.1:c.2731G>A	XP_016857754.1:p.Val911Met
XM_017002266.2:c.2494G>A	XP_016857755.1:p.Val832Met
XM_017002267.1:c.1639G>A	XP_016857756.1:p.Val547Met
XM_017002268.1:c.1639G>A	XP_016857757.1:p.Val547Met
NM_001018054.3:c.2680G>A	NP_001018064.1:p.Val894Met
NM_004631.5:c.2857G>A MANE Select	NP_004622.2:p.Val953Met
NM_017522.5:c.2068G>A	NP_059992.3:p.Val690Met
NM_033300.4:c.2347G>A	NP_150643.2:p.Val783Met