Canonical Allele Identifier: CA340399499

Gene: LRP8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2881G>T MANE Select	ENSP00000303634.6:p.Gly961Ter
ENST00000347547.7:c.2371G>T	ENSP00000334522.2:p.Gly791Ter
ENST00000465675.6:c.2515G>T	ENSP00000437009.2:p.Gly839Ter
ENST00000480045.6:c.*1046G>T	ENSP00000433554.2:n.*1046G>T
ENST00000529670.6:c.419G>T
ENST00000653217.1:c.2416G>T	ENSP00000499777.1:p.Gly806Ter
ENST00000653810.1:c.1602G>T
ENST00000654834.1:n.2341G>T
ENST00000654947.1:c.383G>T	ENSP00000499442.1:n.383G>T
ENST00000656486.1:c.2011G>T	ENSP00000499708.1:p.Gly671Ter
ENST00000657047.1:c.725G>T
ENST00000657895.1:c.2362G>T	ENSP00000499764.1:p.Gly788Ter
ENST00000658277.1:c.2116G>T	ENSP00000499550.1:p.Gly706Ter
ENST00000658404.1:n.2209G>T
ENST00000661457.1:c.*2100G>T	ENSP00000499547.1:n.*2100G>T
ENST00000662198.1:c.2494G>T	ENSP00000499355.1:p.Gly832Ter
ENST00000662604.1:c.2188G>T	ENSP00000499486.1:p.Gly730Ter
ENST00000662802.1:c.643G>T
ENST00000667377.1:c.2677-1048G>T	ENSP00000499405.1:n.2677-1048G>T
ENST00000668071.1:c.2288G>T
ENST00000668448.1:c.2656G>T	ENSP00000499273.1:p.Gly886Ter
ENST00000668991.1:n.2594G>T
ENST00000669432.1:n.9345G>T
ENST00000306052.10:c.2881G>T	ENSP00000303634.6:p.Gly961Ter
ENST00000347547.6:c.2371G>T	ENSP00000334522.2:p.Gly791Ter
ENST00000354412.7:c.2092G>T	ENSP00000346391.3:p.Gly698Ter
ENST00000371454.6:c.2704G>T	ENSP00000360509.2:p.Gly902Ter
ENST00000465675.5:c.1363G>T	ENSP00000437009.1:p.Gly455Ter
ENST00000480045.5:c.*1823G>T	ENSP00000433554.1:n.*1823G>T
ENST00000529670.5:c.354G>T
ENST00000613948.4:c.2089G>T	ENSP00000480025.1:p.Gly697Ter
NM_001018054.2:c.2704G>T	NP_001018064.1:p.Gly902Ter
NM_004631.4:c.2881G>T	NP_004622.2:p.Gly961Ter
NM_017522.4:c.2092G>T	NP_059992.3:p.Gly698Ter
NM_033300.3:c.2371G>T	NP_150643.2:p.Gly791Ter
XM_005271173.2:c.2920G>T	XP_005271230.1:p.Gly974Ter
XM_005271174.2:c.2533G>T	XP_005271231.1:p.Gly845Ter
XM_005271175.2:c.2494G>T	XP_005271232.1:p.Gly832Ter
XM_006710881.2:c.2743G>T	XP_006710944.1:p.Gly915Ter
XM_006710882.2:c.2695G>T	XP_006710945.1:p.Gly899Ter
XM_011542094.1:c.2794G>T	XP_011540396.1:p.Gly932Ter
XM_011542095.1:c.2404G>T	XP_011540397.1:p.Gly802Ter
XM_011542097.1:c.3007G>T	XP_011540399.1:p.Gly1003Ter
XM_005271173.4:c.2920G>T	XP_005271230.1:p.Gly974Ter
XM_005271174.3:c.2533G>T	XP_005271231.1:p.Gly845Ter
XM_005271175.3:c.2494G>T	XP_005271232.1:p.Gly832Ter
XM_006710881.4:c.2743G>T	XP_006710944.1:p.Gly915Ter
XM_006710882.4:c.2695G>T	XP_006710945.1:p.Gly899Ter
XM_011542094.2:c.2794G>T	XP_011540396.1:p.Gly932Ter
XM_011542095.2:c.2404G>T	XP_011540397.1:p.Gly802Ter
XM_017002265.1:c.2755G>T	XP_016857754.1:p.Gly919Ter
XM_017002266.2:c.2518G>T	XP_016857755.1:p.Gly840Ter
XM_017002267.1:c.1663G>T	XP_016857756.1:p.Gly555Ter
XM_017002268.1:c.1663G>T	XP_016857757.1:p.Gly555Ter
NM_001018054.3:c.2704G>T	NP_001018064.1:p.Gly902Ter
NM_004631.5:c.2881G>T MANE Select	NP_004622.2:p.Gly961Ter
NM_017522.5:c.2092G>T	NP_059992.3:p.Gly698Ter
NM_033300.4:c.2371G>T	NP_150643.2:p.Gly791Ter