Canonical Allele Identifier: CA340399501

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712701C>G (hg19) ; chr1:g.53247029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247029C>G , CM000663.2:g.53247029C>G	GRCh38
NC_000001.10:g.53712701C>G , CM000663.1:g.53712701C>G	GRCh37
NC_000001.9:g.53485289C>G	NCBI36
NG_011517.2:g.86121G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2881G>C MANE Select	ENSP00000303634.6:p.Gly961Arg
ENST00000347547.7:c.2371G>C	ENSP00000334522.2:p.Gly791Arg
ENST00000465675.6:c.2515G>C	ENSP00000437009.2:p.Gly839Arg
ENST00000480045.6:c.*1046G>C	ENSP00000433554.2:n.*1046G>C
ENST00000529670.6:c.419G>C
ENST00000653217.1:c.2416G>C	ENSP00000499777.1:p.Gly806Arg
ENST00000653810.1:c.1602G>C
ENST00000654834.1:n.2341G>C
ENST00000654947.1:c.383G>C	ENSP00000499442.1:n.383G>C
ENST00000656486.1:c.2011G>C	ENSP00000499708.1:p.Gly671Arg
ENST00000657047.1:c.725G>C
ENST00000657895.1:c.2362G>C	ENSP00000499764.1:p.Gly788Arg
ENST00000658277.1:c.2116G>C	ENSP00000499550.1:p.Gly706Arg
ENST00000658404.1:n.2209G>C
ENST00000661457.1:c.*2100G>C	ENSP00000499547.1:n.*2100G>C
ENST00000662198.1:c.2494G>C	ENSP00000499355.1:p.Gly832Arg
ENST00000662604.1:c.2188G>C	ENSP00000499486.1:p.Gly730Arg
ENST00000662802.1:c.643G>C
ENST00000667377.1:c.2677-1048G>C	ENSP00000499405.1:n.2677-1048G>C
ENST00000668071.1:c.2288G>C
ENST00000668448.1:c.2656G>C	ENSP00000499273.1:p.Gly886Arg
ENST00000668991.1:n.2594G>C
ENST00000669432.1:n.9345G>C
ENST00000306052.10:c.2881G>C	ENSP00000303634.6:p.Gly961Arg
ENST00000347547.6:c.2371G>C	ENSP00000334522.2:p.Gly791Arg
ENST00000354412.7:c.2092G>C	ENSP00000346391.3:p.Gly698Arg
ENST00000371454.6:c.2704G>C	ENSP00000360509.2:p.Gly902Arg
ENST00000465675.5:c.1363G>C	ENSP00000437009.1:p.Gly455Arg
ENST00000480045.5:c.*1823G>C	ENSP00000433554.1:n.*1823G>C
ENST00000529670.5:c.354G>C
ENST00000613948.4:c.2089G>C	ENSP00000480025.1:p.Gly697Arg
NM_001018054.2:c.2704G>C	NP_001018064.1:p.Gly902Arg
NM_004631.4:c.2881G>C	NP_004622.2:p.Gly961Arg
NM_017522.4:c.2092G>C	NP_059992.3:p.Gly698Arg
NM_033300.3:c.2371G>C	NP_150643.2:p.Gly791Arg
XM_005271173.2:c.2920G>C	XP_005271230.1:p.Gly974Arg
XM_005271174.2:c.2533G>C	XP_005271231.1:p.Gly845Arg
XM_005271175.2:c.2494G>C	XP_005271232.1:p.Gly832Arg
XM_006710881.2:c.2743G>C	XP_006710944.1:p.Gly915Arg
XM_006710882.2:c.2695G>C	XP_006710945.1:p.Gly899Arg
XM_011542094.1:c.2794G>C	XP_011540396.1:p.Gly932Arg
XM_011542095.1:c.2404G>C	XP_011540397.1:p.Gly802Arg
XM_011542097.1:c.3007G>C	XP_011540399.1:p.Gly1003Arg
XM_005271173.4:c.2920G>C	XP_005271230.1:p.Gly974Arg
XM_005271174.3:c.2533G>C	XP_005271231.1:p.Gly845Arg
XM_005271175.3:c.2494G>C	XP_005271232.1:p.Gly832Arg
XM_006710881.4:c.2743G>C	XP_006710944.1:p.Gly915Arg
XM_006710882.4:c.2695G>C	XP_006710945.1:p.Gly899Arg
XM_011542094.2:c.2794G>C	XP_011540396.1:p.Gly932Arg
XM_011542095.2:c.2404G>C	XP_011540397.1:p.Gly802Arg
XM_017002265.1:c.2755G>C	XP_016857754.1:p.Gly919Arg
XM_017002266.2:c.2518G>C	XP_016857755.1:p.Gly840Arg
XM_017002267.1:c.1663G>C	XP_016857756.1:p.Gly555Arg
XM_017002268.1:c.1663G>C	XP_016857757.1:p.Gly555Arg
NM_001018054.3:c.2704G>C	NP_001018064.1:p.Gly902Arg
NM_004631.5:c.2881G>C MANE Select	NP_004622.2:p.Gly961Arg
NM_017522.5:c.2092G>C	NP_059992.3:p.Gly698Arg
NM_033300.4:c.2371G>C	NP_150643.2:p.Gly791Arg