Canonical Allele Identifier: CA522912614

Gene: LRP8

Linked Data

• dbSNP Id: rs1218798116
• gnomAD v2: 1-53712686-A-C
• gnomAD v3: 1-53247014-A-C
• gnomAD v4: 1-53247014-A-C
• MyVariant Identifiers: chr1:g.53712686A>C (hg19) ; chr1:g.53247014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247014A>C , CM000663.2:g.53247014A>C	GRCh38
NC_000001.10:g.53712686A>C , CM000663.1:g.53712686A>C	GRCh37
NC_000001.9:g.53485274A>C	NCBI36
NG_011517.2:g.86136T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.*4T>G MANE Select	ENSP00000303634.6:n.*4T>G
ENST00000465675.6:c.2530T>G	ENSP00000437009.2:n.2530T>G
ENST00000480045.6:c.*1061T>G	ENSP00000433554.2:n.*1061T>G
ENST00000529670.6:c.434T>G
ENST00000653217.1:c.2431T>G	ENSP00000499777.1:n.2431T>G
ENST00000653810.1:c.1617T>G
ENST00000654834.1:n.2356T>G
ENST00000654947.1:c.398T>G	ENSP00000499442.1:n.398T>G
ENST00000656486.1:c.2026T>G	ENSP00000499708.1:n.2026T>G
ENST00000657047.1:c.740T>G
ENST00000657895.1:c.*4T>G	ENSP00000499764.1:n.*4T>G
ENST00000658277.1:c.*4T>G	ENSP00000499550.1:n.*4T>G
ENST00000658404.1:n.2224T>G
ENST00000661457.1:c.*2115T>G	ENSP00000499547.1:n.*2115T>G
ENST00000662198.1:c.*4T>G	ENSP00000499355.1:n.*4T>G
ENST00000662604.1:c.*4T>G	ENSP00000499486.1:n.*4T>G
ENST00000662802.1:c.658T>G
ENST00000667377.1:c.2677-1033T>G	ENSP00000499405.1:n.2677-1033T>G
ENST00000668071.1:c.2303T>G
ENST00000668448.1:c.*4T>G	ENSP00000499273.1:n.*4T>G
ENST00000668991.1:n.2609T>G
ENST00000669432.1:n.9360T>G
ENST00000306052.10:c.*4T>G	ENSP00000303634.6:n.*4T>G
ENST00000354412.7:c.2107T>G	ENSP00000346391.3:n.2107T>G
ENST00000371454.6:c.*4T>G	ENSP00000360509.2:n.*4T>G
ENST00000465675.5:c.*4T>G	ENSP00000437009.1:n.*4T>G
ENST00000480045.5:c.*1838T>G	ENSP00000433554.1:n.*1838T>G
ENST00000529670.5:c.369T>G
ENST00000613948.4:c.2104T>G	ENSP00000480025.1:n.2104T>G
NM_001018054.2:c.*4T>G	NP_001018064.1:n.*4T>G
NM_004631.4:c.*4T>G	NP_004622.2:n.*4T>G
NM_017522.4:c.*4T>G	NP_059992.3:n.*4T>G
NM_033300.3:c.*4T>G	NP_150643.2:n.*4T>G
XM_005271173.2:c.*4T>G	XP_005271230.1:n.*4T>G
XM_005271174.2:c.*4T>G	XP_005271231.1:n.*4T>G
XM_005271175.2:c.*4T>G	XP_005271232.1:n.*4T>G
XM_006710881.2:c.*4T>G	XP_006710944.1:n.*4T>G
XM_006710882.2:c.*4T>G	XP_006710945.1:n.*4T>G
XM_011542094.1:c.*4T>G	XP_011540396.1:n.*4T>G
XM_011542095.1:c.*4T>G	XP_011540397.1:n.*4T>G
XM_011542097.1:c.*4T>G	XP_011540399.1:n.*4T>G
XM_005271173.4:c.*4T>G	XP_005271230.1:n.*4T>G
XM_005271174.3:c.*4T>G	XP_005271231.1:n.*4T>G
XM_005271175.3:c.*4T>G	XP_005271232.1:n.*4T>G
XM_006710881.4:c.*4T>G	XP_006710944.1:n.*4T>G
XM_006710882.4:c.*4T>G	XP_006710945.1:n.*4T>G
XM_011542094.2:c.*4T>G	XP_011540396.1:n.*4T>G
XM_011542095.2:c.*4T>G	XP_011540397.1:n.*4T>G
XM_017002265.1:c.*4T>G	XP_016857754.1:n.*4T>G
XM_017002266.2:c.*4T>G	XP_016857755.1:n.*4T>G
XM_017002267.1:c.*4T>G	XP_016857756.1:n.*4T>G
XM_017002268.1:c.*4T>G	XP_016857757.1:n.*4T>G
NM_001018054.3:c.*4T>G	NP_001018064.1:n.*4T>G
NM_004631.5:c.*4T>G MANE Select	NP_004622.2:n.*4T>G
NM_017522.5:c.*4T>G	NP_059992.3:n.*4T>G
NM_033300.4:c.*4T>G	NP_150643.2:n.*4T>G