Canonical Allele Identifier: CA340399464

Gene: LRP8

Linked Data

• gnomAD v4: 1-53247020-A-G
• MyVariant Identifiers: chr1:g.53712692A>G (hg19) ; chr1:g.53247020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247020A>G , CM000663.2:g.53247020A>G	GRCh38
NC_000001.10:g.53712692A>G , CM000663.1:g.53712692A>G	GRCh37
NC_000001.9:g.53485280A>G	NCBI36
NG_011517.2:g.86130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2890T>C MANE Select	ENSP00000303634.6:p.Ter964Arg
ENST00000347547.7:c.2380T>C	ENSP00000334522.2:p.Ter794Arg
ENST00000465675.6:c.2524T>C	ENSP00000437009.2:p.Ter842Arg
ENST00000480045.6:c.*1055T>C	ENSP00000433554.2:n.*1055T>C
ENST00000529670.6:c.428T>C
ENST00000653217.1:c.2425T>C	ENSP00000499777.1:p.Ter809Arg
ENST00000653810.1:c.1611T>C
ENST00000654834.1:n.2350T>C
ENST00000654947.1:c.392T>C	ENSP00000499442.1:n.392T>C
ENST00000656486.1:c.2020T>C	ENSP00000499708.1:p.Ter674Arg
ENST00000657047.1:c.734T>C
ENST00000657895.1:c.2371T>C	ENSP00000499764.1:p.Ter791Arg
ENST00000658277.1:c.2125T>C	ENSP00000499550.1:p.Ter709Arg
ENST00000658404.1:n.2218T>C
ENST00000661457.1:c.*2109T>C	ENSP00000499547.1:n.*2109T>C
ENST00000662198.1:c.2503T>C	ENSP00000499355.1:p.Ter835Arg
ENST00000662604.1:c.2197T>C	ENSP00000499486.1:p.Ter733Arg
ENST00000662802.1:c.652T>C
ENST00000667377.1:c.2677-1039T>C	ENSP00000499405.1:n.2677-1039T>C
ENST00000668071.1:c.2297T>C
ENST00000668448.1:c.2665T>C	ENSP00000499273.1:p.Ter889Arg
ENST00000668991.1:n.2603T>C
ENST00000669432.1:n.9354T>C
ENST00000306052.10:c.2890T>C	ENSP00000303634.6:p.Ter964Arg
ENST00000347547.6:c.2380T>C	ENSP00000334522.2:p.Ter794Arg
ENST00000354412.7:c.2101T>C	ENSP00000346391.3:p.Ter701Arg
ENST00000371454.6:c.2713T>C	ENSP00000360509.2:p.Ter905Arg
ENST00000465675.5:c.1372T>C	ENSP00000437009.1:p.Ter458Arg
ENST00000480045.5:c.*1832T>C	ENSP00000433554.1:n.*1832T>C
ENST00000529670.5:c.363T>C
ENST00000613948.4:c.2098T>C	ENSP00000480025.1:p.Ter700Arg
NM_001018054.2:c.2713T>C	NP_001018064.1:p.Ter905Arg
NM_004631.4:c.2890T>C	NP_004622.2:p.Ter964Arg
NM_017522.4:c.2101T>C	NP_059992.3:p.Ter701Arg
NM_033300.3:c.2380T>C	NP_150643.2:p.Ter794Arg
XM_005271173.2:c.2929T>C	XP_005271230.1:p.Ter977Arg
XM_005271174.2:c.2542T>C	XP_005271231.1:p.Ter848Arg
XM_005271175.2:c.2503T>C	XP_005271232.1:p.Ter835Arg
XM_006710881.2:c.2752T>C	XP_006710944.1:p.Ter918Arg
XM_006710882.2:c.2704T>C	XP_006710945.1:p.Ter902Arg
XM_011542094.1:c.2803T>C	XP_011540396.1:p.Ter935Arg
XM_011542095.1:c.2413T>C	XP_011540397.1:p.Ter805Arg
XM_011542097.1:c.3016T>C	XP_011540399.1:p.Ter1006Arg
XM_005271173.4:c.2929T>C	XP_005271230.1:p.Ter977Arg
XM_005271174.3:c.2542T>C	XP_005271231.1:p.Ter848Arg
XM_005271175.3:c.2503T>C	XP_005271232.1:p.Ter835Arg
XM_006710881.4:c.2752T>C	XP_006710944.1:p.Ter918Arg
XM_006710882.4:c.2704T>C	XP_006710945.1:p.Ter902Arg
XM_011542094.2:c.2803T>C	XP_011540396.1:p.Ter935Arg
XM_011542095.2:c.2413T>C	XP_011540397.1:p.Ter805Arg
XM_017002265.1:c.2764T>C	XP_016857754.1:p.Ter922Arg
XM_017002266.2:c.2527T>C	XP_016857755.1:p.Ter843Arg
XM_017002267.1:c.1672T>C	XP_016857756.1:p.Ter558Arg
XM_017002268.1:c.1672T>C	XP_016857757.1:p.Ter558Arg
NM_001018054.3:c.2713T>C	NP_001018064.1:p.Ter905Arg
NM_004631.5:c.2890T>C MANE Select	NP_004622.2:p.Ter964Arg
NM_017522.5:c.2101T>C	NP_059992.3:p.Ter701Arg
NM_033300.4:c.2380T>C	NP_150643.2:p.Ter794Arg