Canonical Allele Identifier: CA340399452

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712690T>A (hg19) ; chr1:g.53247018T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247018T>A , CM000663.2:g.53247018T>A	GRCh38
NC_000001.10:g.53712690T>A , CM000663.1:g.53712690T>A	GRCh37
NC_000001.9:g.53485278T>A	NCBI36
NG_011517.2:g.86132A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2892A>T MANE Select	ENSP00000303634.6:p.Ter964Cys
ENST00000347547.7:c.2382A>T	ENSP00000334522.2:p.Ter794Cys
ENST00000465675.6:c.2526A>T	ENSP00000437009.2:p.Ter842Cys
ENST00000480045.6:c.*1057A>T	ENSP00000433554.2:n.*1057A>T
ENST00000529670.6:c.430A>T
ENST00000653217.1:c.2427A>T	ENSP00000499777.1:p.Ter809Cys
ENST00000653810.1:c.1613A>T
ENST00000654834.1:n.2352A>T
ENST00000654947.1:c.394A>T	ENSP00000499442.1:n.394A>T
ENST00000656486.1:c.2022A>T	ENSP00000499708.1:p.Ter674Cys
ENST00000657047.1:c.736A>T
ENST00000657895.1:c.2373A>T	ENSP00000499764.1:p.Ter791Cys
ENST00000658277.1:c.2127A>T	ENSP00000499550.1:p.Ter709Cys
ENST00000658404.1:n.2220A>T
ENST00000661457.1:c.*2111A>T	ENSP00000499547.1:n.*2111A>T
ENST00000662198.1:c.2505A>T	ENSP00000499355.1:p.Ter835Cys
ENST00000662604.1:c.2199A>T	ENSP00000499486.1:p.Ter733Cys
ENST00000662802.1:c.654A>T
ENST00000667377.1:c.2677-1037A>T	ENSP00000499405.1:n.2677-1037A>T
ENST00000668071.1:c.2299A>T
ENST00000668448.1:c.2667A>T	ENSP00000499273.1:p.Ter889Cys
ENST00000668991.1:n.2605A>T
ENST00000669432.1:n.9356A>T
ENST00000306052.10:c.2892A>T	ENSP00000303634.6:p.Ter964Cys
ENST00000347547.6:c.2382A>T	ENSP00000334522.2:p.Ter794Cys
ENST00000354412.7:c.2103A>T	ENSP00000346391.3:p.Ter701Cys
ENST00000371454.6:c.2715A>T	ENSP00000360509.2:p.Ter905Cys
ENST00000465675.5:c.1374A>T	ENSP00000437009.1:p.Ter458Cys
ENST00000480045.5:c.*1834A>T	ENSP00000433554.1:n.*1834A>T
ENST00000529670.5:c.365A>T
ENST00000613948.4:c.2100A>T	ENSP00000480025.1:p.Ter700Cys
NM_001018054.2:c.2715A>T	NP_001018064.1:p.Ter905Cys
NM_004631.4:c.2892A>T	NP_004622.2:p.Ter964Cys
NM_017522.4:c.2103A>T	NP_059992.3:p.Ter701Cys
NM_033300.3:c.2382A>T	NP_150643.2:p.Ter794Cys
XM_005271173.2:c.2931A>T	XP_005271230.1:p.Ter977Cys
XM_005271174.2:c.2544A>T	XP_005271231.1:p.Ter848Cys
XM_005271175.2:c.2505A>T	XP_005271232.1:p.Ter835Cys
XM_006710881.2:c.2754A>T	XP_006710944.1:p.Ter918Cys
XM_006710882.2:c.2706A>T	XP_006710945.1:p.Ter902Cys
XM_011542094.1:c.2805A>T	XP_011540396.1:p.Ter935Cys
XM_011542095.1:c.2415A>T	XP_011540397.1:p.Ter805Cys
XM_011542097.1:c.3018A>T	XP_011540399.1:p.Ter1006Cys
XM_005271173.4:c.2931A>T	XP_005271230.1:p.Ter977Cys
XM_005271174.3:c.2544A>T	XP_005271231.1:p.Ter848Cys
XM_005271175.3:c.2505A>T	XP_005271232.1:p.Ter835Cys
XM_006710881.4:c.2754A>T	XP_006710944.1:p.Ter918Cys
XM_006710882.4:c.2706A>T	XP_006710945.1:p.Ter902Cys
XM_011542094.2:c.2805A>T	XP_011540396.1:p.Ter935Cys
XM_011542095.2:c.2415A>T	XP_011540397.1:p.Ter805Cys
XM_017002265.1:c.2766A>T	XP_016857754.1:p.Ter922Cys
XM_017002266.2:c.2529A>T	XP_016857755.1:p.Ter843Cys
XM_017002267.1:c.1674A>T	XP_016857756.1:p.Ter558Cys
XM_017002268.1:c.1674A>T	XP_016857757.1:p.Ter558Cys
NM_001018054.3:c.2715A>T	NP_001018064.1:p.Ter905Cys
NM_004631.5:c.2892A>T MANE Select	NP_004622.2:p.Ter964Cys
NM_017522.5:c.2103A>T	NP_059992.3:p.Ter701Cys
NM_033300.4:c.2382A>T	NP_150643.2:p.Ter794Cys