Canonical Allele Identifier: CA2645717384

Gene: LRP8

Linked Data

• gnomAD v4: 1-53246971-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53246971G>T , CM000663.2:g.53246971G>T	GRCh38
NC_000001.10:g.53712643G>T , CM000663.1:g.53712643G>T	GRCh37
NC_000001.9:g.53485231G>T	NCBI36
NG_011517.2:g.86179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.*47C>A MANE Select	ENSP00000303634.6:n.*47C>A
ENST00000465675.6:c.2573C>A	ENSP00000437009.2:n.2573C>A
ENST00000480045.6:c.*1104C>A	ENSP00000433554.2:n.*1104C>A
ENST00000529670.6:c.477C>A
ENST00000653217.1:c.2474C>A	ENSP00000499777.1:n.2474C>A
ENST00000653810.1:c.1660C>A
ENST00000654834.1:n.2399C>A
ENST00000654947.1:c.441C>A	ENSP00000499442.1:n.441C>A
ENST00000656486.1:c.2069C>A	ENSP00000499708.1:n.2069C>A
ENST00000657047.1:c.783C>A
ENST00000657895.1:c.*47C>A	ENSP00000499764.1:n.*47C>A
ENST00000658277.1:c.*47C>A	ENSP00000499550.1:n.*47C>A
ENST00000658404.1:n.2267C>A
ENST00000661457.1:c.*2158C>A	ENSP00000499547.1:n.*2158C>A
ENST00000662198.1:c.*47C>A	ENSP00000499355.1:n.*47C>A
ENST00000662604.1:c.*47C>A	ENSP00000499486.1:n.*47C>A
ENST00000662802.1:c.701C>A
ENST00000667377.1:c.2677-990C>A	ENSP00000499405.1:n.2677-990C>A
ENST00000668071.1:c.2346C>A
ENST00000668448.1:c.*47C>A	ENSP00000499273.1:n.*47C>A
ENST00000668991.1:n.2652C>A
ENST00000669432.1:n.9403C>A
ENST00000306052.10:c.*47C>A	ENSP00000303634.6:n.*47C>A
ENST00000354412.7:c.2150C>A	ENSP00000346391.3:n.2150C>A
ENST00000371454.6:c.*47C>A	ENSP00000360509.2:n.*47C>A
ENST00000465675.5:c.*47C>A	ENSP00000437009.1:n.*47C>A
ENST00000480045.5:c.*1881C>A	ENSP00000433554.1:n.*1881C>A
ENST00000529670.5:c.412C>A
ENST00000613948.4:c.2147C>A	ENSP00000480025.1:n.2147C>A
NM_001018054.2:c.*47C>A	NP_001018064.1:n.*47C>A
NM_004631.4:c.*47C>A	NP_004622.2:n.*47C>A
NM_017522.4:c.*47C>A	NP_059992.3:n.*47C>A
NM_033300.3:c.*47C>A	NP_150643.2:n.*47C>A
XM_005271173.2:c.*47C>A	XP_005271230.1:n.*47C>A
XM_005271174.2:c.*47C>A	XP_005271231.1:n.*47C>A
XM_005271175.2:c.*47C>A	XP_005271232.1:n.*47C>A
XM_006710881.2:c.*47C>A	XP_006710944.1:n.*47C>A
XM_006710882.2:c.*47C>A	XP_006710945.1:n.*47C>A
XM_011542094.1:c.*47C>A	XP_011540396.1:n.*47C>A
XM_011542095.1:c.*47C>A	XP_011540397.1:n.*47C>A
XM_011542097.1:c.*47C>A	XP_011540399.1:n.*47C>A
XM_005271173.4:c.*47C>A	XP_005271230.1:n.*47C>A
XM_005271174.3:c.*47C>A	XP_005271231.1:n.*47C>A
XM_005271175.3:c.*47C>A	XP_005271232.1:n.*47C>A
XM_006710881.4:c.*47C>A	XP_006710944.1:n.*47C>A
XM_006710882.4:c.*47C>A	XP_006710945.1:n.*47C>A
XM_011542094.2:c.*47C>A	XP_011540396.1:n.*47C>A
XM_011542095.2:c.*47C>A	XP_011540397.1:n.*47C>A
XM_017002265.1:c.*47C>A	XP_016857754.1:n.*47C>A
XM_017002266.2:c.*47C>A	XP_016857755.1:n.*47C>A
XM_017002267.1:c.*47C>A	XP_016857756.1:n.*47C>A
XM_017002268.1:c.*47C>A	XP_016857757.1:n.*47C>A
NM_001018054.3:c.*47C>A	NP_001018064.1:n.*47C>A
NM_004631.5:c.*47C>A MANE Select	NP_004622.2:n.*47C>A
NM_017522.5:c.*47C>A	NP_059992.3:n.*47C>A
NM_033300.4:c.*47C>A	NP_150643.2:n.*47C>A