Canonical Allele Identifier: CA340399534

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712707C>A (hg19) ; chr1:g.53247035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247035C>A , CM000663.2:g.53247035C>A	GRCh38
NC_000001.10:g.53712707C>A , CM000663.1:g.53712707C>A	GRCh37
NC_000001.9:g.53485295C>A	NCBI36
NG_011517.2:g.86115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2875G>T MANE Select	ENSP00000303634.6:p.Asp959Tyr
ENST00000347547.7:c.2365G>T	ENSP00000334522.2:p.Asp789Tyr
ENST00000465675.6:c.2509G>T	ENSP00000437009.2:p.Asp837Tyr
ENST00000480045.6:c.*1040G>T	ENSP00000433554.2:n.*1040G>T
ENST00000529670.6:c.413G>T
ENST00000653217.1:c.2410G>T	ENSP00000499777.1:p.Asp804Tyr
ENST00000653810.1:c.1596G>T
ENST00000654834.1:n.2335G>T
ENST00000654947.1:c.377G>T	ENSP00000499442.1:n.377G>T
ENST00000656486.1:c.2005G>T	ENSP00000499708.1:p.Asp669Tyr
ENST00000657047.1:c.719G>T
ENST00000657895.1:c.2356G>T	ENSP00000499764.1:p.Asp786Tyr
ENST00000658277.1:c.2110G>T	ENSP00000499550.1:p.Asp704Tyr
ENST00000658404.1:n.2203G>T
ENST00000661457.1:c.*2094G>T	ENSP00000499547.1:n.*2094G>T
ENST00000662198.1:c.2488G>T	ENSP00000499355.1:p.Asp830Tyr
ENST00000662604.1:c.2182G>T	ENSP00000499486.1:p.Asp728Tyr
ENST00000662802.1:c.637G>T
ENST00000667377.1:c.2677-1054G>T	ENSP00000499405.1:n.2677-1054G>T
ENST00000668071.1:c.2282G>T
ENST00000668448.1:c.2650G>T	ENSP00000499273.1:p.Asp884Tyr
ENST00000668991.1:n.2588G>T
ENST00000669432.1:n.9339G>T
ENST00000306052.10:c.2875G>T	ENSP00000303634.6:p.Asp959Tyr
ENST00000347547.6:c.2365G>T	ENSP00000334522.2:p.Asp789Tyr
ENST00000354412.7:c.2086G>T	ENSP00000346391.3:p.Asp696Tyr
ENST00000371454.6:c.2698G>T	ENSP00000360509.2:p.Asp900Tyr
ENST00000465675.5:c.1357G>T	ENSP00000437009.1:p.Asp453Tyr
ENST00000480045.5:c.*1817G>T	ENSP00000433554.1:n.*1817G>T
ENST00000529670.5:c.348G>T
ENST00000613948.4:c.2083G>T	ENSP00000480025.1:p.Asp695Tyr
NM_001018054.2:c.2698G>T	NP_001018064.1:p.Asp900Tyr
NM_004631.4:c.2875G>T	NP_004622.2:p.Asp959Tyr
NM_017522.4:c.2086G>T	NP_059992.3:p.Asp696Tyr
NM_033300.3:c.2365G>T	NP_150643.2:p.Asp789Tyr
XM_005271173.2:c.2914G>T	XP_005271230.1:p.Asp972Tyr
XM_005271174.2:c.2527G>T	XP_005271231.1:p.Asp843Tyr
XM_005271175.2:c.2488G>T	XP_005271232.1:p.Asp830Tyr
XM_006710881.2:c.2737G>T	XP_006710944.1:p.Asp913Tyr
XM_006710882.2:c.2689G>T	XP_006710945.1:p.Asp897Tyr
XM_011542094.1:c.2788G>T	XP_011540396.1:p.Asp930Tyr
XM_011542095.1:c.2398G>T	XP_011540397.1:p.Asp800Tyr
XM_011542097.1:c.3001G>T	XP_011540399.1:p.Asp1001Tyr
XM_005271173.4:c.2914G>T	XP_005271230.1:p.Asp972Tyr
XM_005271174.3:c.2527G>T	XP_005271231.1:p.Asp843Tyr
XM_005271175.3:c.2488G>T	XP_005271232.1:p.Asp830Tyr
XM_006710881.4:c.2737G>T	XP_006710944.1:p.Asp913Tyr
XM_006710882.4:c.2689G>T	XP_006710945.1:p.Asp897Tyr
XM_011542094.2:c.2788G>T	XP_011540396.1:p.Asp930Tyr
XM_011542095.2:c.2398G>T	XP_011540397.1:p.Asp800Tyr
XM_017002265.1:c.2749G>T	XP_016857754.1:p.Asp917Tyr
XM_017002266.2:c.2512G>T	XP_016857755.1:p.Asp838Tyr
XM_017002267.1:c.1657G>T	XP_016857756.1:p.Asp553Tyr
XM_017002268.1:c.1657G>T	XP_016857757.1:p.Asp553Tyr
NM_001018054.3:c.2698G>T	NP_001018064.1:p.Asp900Tyr
NM_004631.5:c.2875G>T MANE Select	NP_004622.2:p.Asp959Tyr
NM_017522.5:c.2086G>T	NP_059992.3:p.Asp696Tyr
NM_033300.4:c.2365G>T	NP_150643.2:p.Asp789Tyr