Canonical Allele Identifier: CA340399595

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712719A>C (hg19) ; chr1:g.53247047A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247047A>C , CM000663.2:g.53247047A>C	GRCh38
NC_000001.10:g.53712719A>C , CM000663.1:g.53712719A>C	GRCh37
NC_000001.9:g.53485307A>C	NCBI36
NG_011517.2:g.86103T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2863T>G MANE Select	ENSP00000303634.6:p.Leu955Val
ENST00000347547.7:c.2353T>G	ENSP00000334522.2:p.Leu785Val
ENST00000465675.6:c.2497T>G	ENSP00000437009.2:p.Leu833Val
ENST00000480045.6:c.*1028T>G	ENSP00000433554.2:n.*1028T>G
ENST00000529670.6:c.401T>G
ENST00000653217.1:c.2398T>G	ENSP00000499777.1:p.Leu800Val
ENST00000653810.1:c.1584T>G
ENST00000654834.1:n.2323T>G
ENST00000654947.1:c.365T>G	ENSP00000499442.1:p.Ile122Ser
ENST00000656486.1:c.1993T>G	ENSP00000499708.1:p.Leu665Val
ENST00000657047.1:c.707T>G
ENST00000657895.1:c.2344T>G	ENSP00000499764.1:p.Leu782Val
ENST00000658277.1:c.2098T>G	ENSP00000499550.1:p.Leu700Val
ENST00000658404.1:n.2191T>G
ENST00000661457.1:c.*2082T>G	ENSP00000499547.1:n.*2082T>G
ENST00000662198.1:c.2476T>G	ENSP00000499355.1:p.Leu826Val
ENST00000662604.1:c.2170T>G	ENSP00000499486.1:p.Leu724Val
ENST00000662802.1:c.625T>G
ENST00000667377.1:c.2677-1066T>G	ENSP00000499405.1:n.2677-1066T>G
ENST00000668071.1:c.2270T>G
ENST00000668448.1:c.2638T>G	ENSP00000499273.1:p.Leu880Val
ENST00000668991.1:n.2576T>G
ENST00000669432.1:n.9327T>G
ENST00000306052.10:c.2863T>G	ENSP00000303634.6:p.Leu955Val
ENST00000347547.6:c.2353T>G	ENSP00000334522.2:p.Leu785Val
ENST00000354412.7:c.2074T>G	ENSP00000346391.3:p.Leu692Val
ENST00000371454.6:c.2686T>G	ENSP00000360509.2:p.Leu896Val
ENST00000465675.5:c.1345T>G	ENSP00000437009.1:p.Leu449Val
ENST00000480045.5:c.*1805T>G	ENSP00000433554.1:n.*1805T>G
ENST00000529670.5:c.336T>G
ENST00000613948.4:c.2071T>G	ENSP00000480025.1:p.Leu691Val
NM_001018054.2:c.2686T>G	NP_001018064.1:p.Leu896Val
NM_004631.4:c.2863T>G	NP_004622.2:p.Leu955Val
NM_017522.4:c.2074T>G	NP_059992.3:p.Leu692Val
NM_033300.3:c.2353T>G	NP_150643.2:p.Leu785Val
XM_005271173.2:c.2902T>G	XP_005271230.1:p.Leu968Val
XM_005271174.2:c.2515T>G	XP_005271231.1:p.Leu839Val
XM_005271175.2:c.2476T>G	XP_005271232.1:p.Leu826Val
XM_006710881.2:c.2725T>G	XP_006710944.1:p.Leu909Val
XM_006710882.2:c.2677T>G	XP_006710945.1:p.Leu893Val
XM_011542094.1:c.2776T>G	XP_011540396.1:p.Leu926Val
XM_011542095.1:c.2386T>G	XP_011540397.1:p.Leu796Val
XM_011542097.1:c.2989T>G	XP_011540399.1:p.Leu997Val
XM_005271173.4:c.2902T>G	XP_005271230.1:p.Leu968Val
XM_005271174.3:c.2515T>G	XP_005271231.1:p.Leu839Val
XM_005271175.3:c.2476T>G	XP_005271232.1:p.Leu826Val
XM_006710881.4:c.2725T>G	XP_006710944.1:p.Leu909Val
XM_006710882.4:c.2677T>G	XP_006710945.1:p.Leu893Val
XM_011542094.2:c.2776T>G	XP_011540396.1:p.Leu926Val
XM_011542095.2:c.2386T>G	XP_011540397.1:p.Leu796Val
XM_017002265.1:c.2737T>G	XP_016857754.1:p.Leu913Val
XM_017002266.2:c.2500T>G	XP_016857755.1:p.Leu834Val
XM_017002267.1:c.1645T>G	XP_016857756.1:p.Leu549Val
XM_017002268.1:c.1645T>G	XP_016857757.1:p.Leu549Val
NM_001018054.3:c.2686T>G	NP_001018064.1:p.Leu896Val
NM_004631.5:c.2863T>G MANE Select	NP_004622.2:p.Leu955Val
NM_017522.5:c.2074T>G	NP_059992.3:p.Leu692Val
NM_033300.4:c.2353T>G	NP_150643.2:p.Leu785Val