Canonical Allele Identifier: CA340399523

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712705A>C (hg19) ; chr1:g.53247033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247033A>C , CM000663.2:g.53247033A>C	GRCh38
NC_000001.10:g.53712705A>C , CM000663.1:g.53712705A>C	GRCh37
NC_000001.9:g.53485293A>C	NCBI36
NG_011517.2:g.86117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2877T>G MANE Select	ENSP00000303634.6:p.Asp959Glu
ENST00000347547.7:c.2367T>G	ENSP00000334522.2:p.Asp789Glu
ENST00000465675.6:c.2511T>G	ENSP00000437009.2:p.Asp837Glu
ENST00000480045.6:c.*1042T>G	ENSP00000433554.2:n.*1042T>G
ENST00000529670.6:c.415T>G
ENST00000653217.1:c.2412T>G	ENSP00000499777.1:p.Asp804Glu
ENST00000653810.1:c.1598T>G
ENST00000654834.1:n.2337T>G
ENST00000654947.1:c.379T>G	ENSP00000499442.1:n.379T>G
ENST00000656486.1:c.2007T>G	ENSP00000499708.1:p.Asp669Glu
ENST00000657047.1:c.721T>G
ENST00000657895.1:c.2358T>G	ENSP00000499764.1:p.Asp786Glu
ENST00000658277.1:c.2112T>G	ENSP00000499550.1:p.Asp704Glu
ENST00000658404.1:n.2205T>G
ENST00000661457.1:c.*2096T>G	ENSP00000499547.1:n.*2096T>G
ENST00000662198.1:c.2490T>G	ENSP00000499355.1:p.Asp830Glu
ENST00000662604.1:c.2184T>G	ENSP00000499486.1:p.Asp728Glu
ENST00000662802.1:c.639T>G
ENST00000667377.1:c.2677-1052T>G	ENSP00000499405.1:n.2677-1052T>G
ENST00000668071.1:c.2284T>G
ENST00000668448.1:c.2652T>G	ENSP00000499273.1:p.Asp884Glu
ENST00000668991.1:n.2590T>G
ENST00000669432.1:n.9341T>G
ENST00000306052.10:c.2877T>G	ENSP00000303634.6:p.Asp959Glu
ENST00000347547.6:c.2367T>G	ENSP00000334522.2:p.Asp789Glu
ENST00000354412.7:c.2088T>G	ENSP00000346391.3:p.Asp696Glu
ENST00000371454.6:c.2700T>G	ENSP00000360509.2:p.Asp900Glu
ENST00000465675.5:c.1359T>G	ENSP00000437009.1:p.Asp453Glu
ENST00000480045.5:c.*1819T>G	ENSP00000433554.1:n.*1819T>G
ENST00000529670.5:c.350T>G
ENST00000613948.4:c.2085T>G	ENSP00000480025.1:p.Asp695Glu
NM_001018054.2:c.2700T>G	NP_001018064.1:p.Asp900Glu
NM_004631.4:c.2877T>G	NP_004622.2:p.Asp959Glu
NM_017522.4:c.2088T>G	NP_059992.3:p.Asp696Glu
NM_033300.3:c.2367T>G	NP_150643.2:p.Asp789Glu
XM_005271173.2:c.2916T>G	XP_005271230.1:p.Asp972Glu
XM_005271174.2:c.2529T>G	XP_005271231.1:p.Asp843Glu
XM_005271175.2:c.2490T>G	XP_005271232.1:p.Asp830Glu
XM_006710881.2:c.2739T>G	XP_006710944.1:p.Asp913Glu
XM_006710882.2:c.2691T>G	XP_006710945.1:p.Asp897Glu
XM_011542094.1:c.2790T>G	XP_011540396.1:p.Asp930Glu
XM_011542095.1:c.2400T>G	XP_011540397.1:p.Asp800Glu
XM_011542097.1:c.3003T>G	XP_011540399.1:p.Asp1001Glu
XM_005271173.4:c.2916T>G	XP_005271230.1:p.Asp972Glu
XM_005271174.3:c.2529T>G	XP_005271231.1:p.Asp843Glu
XM_005271175.3:c.2490T>G	XP_005271232.1:p.Asp830Glu
XM_006710881.4:c.2739T>G	XP_006710944.1:p.Asp913Glu
XM_006710882.4:c.2691T>G	XP_006710945.1:p.Asp897Glu
XM_011542094.2:c.2790T>G	XP_011540396.1:p.Asp930Glu
XM_011542095.2:c.2400T>G	XP_011540397.1:p.Asp800Glu
XM_017002265.1:c.2751T>G	XP_016857754.1:p.Asp917Glu
XM_017002266.2:c.2514T>G	XP_016857755.1:p.Asp838Glu
XM_017002267.1:c.1659T>G	XP_016857756.1:p.Asp553Glu
XM_017002268.1:c.1659T>G	XP_016857757.1:p.Asp553Glu
NM_001018054.3:c.2700T>G	NP_001018064.1:p.Asp900Glu
NM_004631.5:c.2877T>G MANE Select	NP_004622.2:p.Asp959Glu
NM_017522.5:c.2088T>G	NP_059992.3:p.Asp696Glu
NM_033300.4:c.2367T>G	NP_150643.2:p.Asp789Glu