Canonical Allele Identifier: CA340399468

Gene: LRP8

Linked Data

• dbSNP Id: rs1645746701
• gnomAD v4: 1-53247022-G-A
• MyVariant Identifiers: chr1:g.53712694G>A (hg19) ; chr1:g.53247022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247022G>A , CM000663.2:g.53247022G>A	GRCh38
NC_000001.10:g.53712694G>A , CM000663.1:g.53712694G>A	GRCh37
NC_000001.9:g.53485282G>A	NCBI36
NG_011517.2:g.86128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2888C>T MANE Select	ENSP00000303634.6:p.Pro963Leu
ENST00000347547.7:c.2378C>T	ENSP00000334522.2:p.Pro793Leu
ENST00000465675.6:c.2522C>T	ENSP00000437009.2:p.Pro841Leu
ENST00000480045.6:c.*1053C>T	ENSP00000433554.2:n.*1053C>T
ENST00000529670.6:c.426C>T
ENST00000653217.1:c.2423C>T	ENSP00000499777.1:p.Pro808Leu
ENST00000653810.1:c.1609C>T
ENST00000654834.1:n.2348C>T
ENST00000654947.1:c.390C>T	ENSP00000499442.1:n.390C>T
ENST00000656486.1:c.2018C>T	ENSP00000499708.1:p.Pro673Leu
ENST00000657047.1:c.732C>T
ENST00000657895.1:c.2369C>T	ENSP00000499764.1:p.Pro790Leu
ENST00000658277.1:c.2123C>T	ENSP00000499550.1:p.Pro708Leu
ENST00000658404.1:n.2216C>T
ENST00000661457.1:c.*2107C>T	ENSP00000499547.1:n.*2107C>T
ENST00000662198.1:c.2501C>T	ENSP00000499355.1:p.Pro834Leu
ENST00000662604.1:c.2195C>T	ENSP00000499486.1:p.Pro732Leu
ENST00000662802.1:c.650C>T
ENST00000667377.1:c.2677-1041C>T	ENSP00000499405.1:n.2677-1041C>T
ENST00000668071.1:c.2295C>T
ENST00000668448.1:c.2663C>T	ENSP00000499273.1:p.Pro888Leu
ENST00000668991.1:n.2601C>T
ENST00000669432.1:n.9352C>T
ENST00000306052.10:c.2888C>T	ENSP00000303634.6:p.Pro963Leu
ENST00000347547.6:c.2378C>T	ENSP00000334522.2:p.Pro793Leu
ENST00000354412.7:c.2099C>T	ENSP00000346391.3:p.Pro700Leu
ENST00000371454.6:c.2711C>T	ENSP00000360509.2:p.Pro904Leu
ENST00000465675.5:c.1370C>T	ENSP00000437009.1:p.Pro457Leu
ENST00000480045.5:c.*1830C>T	ENSP00000433554.1:n.*1830C>T
ENST00000529670.5:c.361C>T
ENST00000613948.4:c.2096C>T	ENSP00000480025.1:p.Pro699Leu
NM_001018054.2:c.2711C>T	NP_001018064.1:p.Pro904Leu
NM_004631.4:c.2888C>T	NP_004622.2:p.Pro963Leu
NM_017522.4:c.2099C>T	NP_059992.3:p.Pro700Leu
NM_033300.3:c.2378C>T	NP_150643.2:p.Pro793Leu
XM_005271173.2:c.2927C>T	XP_005271230.1:p.Pro976Leu
XM_005271174.2:c.2540C>T	XP_005271231.1:p.Pro847Leu
XM_005271175.2:c.2501C>T	XP_005271232.1:p.Pro834Leu
XM_006710881.2:c.2750C>T	XP_006710944.1:p.Pro917Leu
XM_006710882.2:c.2702C>T	XP_006710945.1:p.Pro901Leu
XM_011542094.1:c.2801C>T	XP_011540396.1:p.Pro934Leu
XM_011542095.1:c.2411C>T	XP_011540397.1:p.Pro804Leu
XM_011542097.1:c.3014C>T	XP_011540399.1:p.Pro1005Leu
XM_005271173.4:c.2927C>T	XP_005271230.1:p.Pro976Leu
XM_005271174.3:c.2540C>T	XP_005271231.1:p.Pro847Leu
XM_005271175.3:c.2501C>T	XP_005271232.1:p.Pro834Leu
XM_006710881.4:c.2750C>T	XP_006710944.1:p.Pro917Leu
XM_006710882.4:c.2702C>T	XP_006710945.1:p.Pro901Leu
XM_011542094.2:c.2801C>T	XP_011540396.1:p.Pro934Leu
XM_011542095.2:c.2411C>T	XP_011540397.1:p.Pro804Leu
XM_017002265.1:c.2762C>T	XP_016857754.1:p.Pro921Leu
XM_017002266.2:c.2525C>T	XP_016857755.1:p.Pro842Leu
XM_017002267.1:c.1670C>T	XP_016857756.1:p.Pro557Leu
XM_017002268.1:c.1670C>T	XP_016857757.1:p.Pro557Leu
NM_001018054.3:c.2711C>T	NP_001018064.1:p.Pro904Leu
NM_004631.5:c.2888C>T MANE Select	NP_004622.2:p.Pro963Leu
NM_017522.5:c.2099C>T	NP_059992.3:p.Pro700Leu
NM_033300.4:c.2378C>T	NP_150643.2:p.Pro793Leu