Canonical Allele Identifier: CA340399590

Gene: LRP8

Linked Data

• MyVariant Identifiers: chr1:g.53712718A>C (hg19) ; chr1:g.53247046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53247046A>C , CM000663.2:g.53247046A>C	GRCh38
NC_000001.10:g.53712718A>C , CM000663.1:g.53712718A>C	GRCh37
NC_000001.9:g.53485306A>C	NCBI36
NG_011517.2:g.86104T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.2864T>G MANE Select	ENSP00000303634.6:p.Leu955Ter
ENST00000347547.7:c.2354T>G	ENSP00000334522.2:p.Leu785Ter
ENST00000465675.6:c.2498T>G	ENSP00000437009.2:p.Leu833Ter
ENST00000480045.6:c.*1029T>G	ENSP00000433554.2:n.*1029T>G
ENST00000529670.6:c.402T>G
ENST00000653217.1:c.2399T>G	ENSP00000499777.1:p.Leu800Ter
ENST00000653810.1:c.1585T>G
ENST00000654834.1:n.2324T>G
ENST00000654947.1:c.366T>G	ENSP00000499442.1:p.Ile122Met
ENST00000656486.1:c.1994T>G	ENSP00000499708.1:p.Leu665Ter
ENST00000657047.1:c.708T>G
ENST00000657895.1:c.2345T>G	ENSP00000499764.1:p.Leu782Ter
ENST00000658277.1:c.2099T>G	ENSP00000499550.1:p.Leu700Ter
ENST00000658404.1:n.2192T>G
ENST00000661457.1:c.*2083T>G	ENSP00000499547.1:n.*2083T>G
ENST00000662198.1:c.2477T>G	ENSP00000499355.1:p.Leu826Ter
ENST00000662604.1:c.2171T>G	ENSP00000499486.1:p.Leu724Ter
ENST00000662802.1:c.626T>G
ENST00000667377.1:c.2677-1065T>G	ENSP00000499405.1:n.2677-1065T>G
ENST00000668071.1:c.2271T>G
ENST00000668448.1:c.2639T>G	ENSP00000499273.1:p.Leu880Ter
ENST00000668991.1:n.2577T>G
ENST00000669432.1:n.9328T>G
ENST00000306052.10:c.2864T>G	ENSP00000303634.6:p.Leu955Ter
ENST00000347547.6:c.2354T>G	ENSP00000334522.2:p.Leu785Ter
ENST00000354412.7:c.2075T>G	ENSP00000346391.3:p.Leu692Ter
ENST00000371454.6:c.2687T>G	ENSP00000360509.2:p.Leu896Ter
ENST00000465675.5:c.1346T>G	ENSP00000437009.1:p.Leu449Ter
ENST00000480045.5:c.*1806T>G	ENSP00000433554.1:n.*1806T>G
ENST00000529670.5:c.337T>G
ENST00000613948.4:c.2072T>G	ENSP00000480025.1:p.Leu691Ter
NM_001018054.2:c.2687T>G	NP_001018064.1:p.Leu896Ter
NM_004631.4:c.2864T>G	NP_004622.2:p.Leu955Ter
NM_017522.4:c.2075T>G	NP_059992.3:p.Leu692Ter
NM_033300.3:c.2354T>G	NP_150643.2:p.Leu785Ter
XM_005271173.2:c.2903T>G	XP_005271230.1:p.Leu968Ter
XM_005271174.2:c.2516T>G	XP_005271231.1:p.Leu839Ter
XM_005271175.2:c.2477T>G	XP_005271232.1:p.Leu826Ter
XM_006710881.2:c.2726T>G	XP_006710944.1:p.Leu909Ter
XM_006710882.2:c.2678T>G	XP_006710945.1:p.Leu893Ter
XM_011542094.1:c.2777T>G	XP_011540396.1:p.Leu926Ter
XM_011542095.1:c.2387T>G	XP_011540397.1:p.Leu796Ter
XM_011542097.1:c.2990T>G	XP_011540399.1:p.Leu997Ter
XM_005271173.4:c.2903T>G	XP_005271230.1:p.Leu968Ter
XM_005271174.3:c.2516T>G	XP_005271231.1:p.Leu839Ter
XM_005271175.3:c.2477T>G	XP_005271232.1:p.Leu826Ter
XM_006710881.4:c.2726T>G	XP_006710944.1:p.Leu909Ter
XM_006710882.4:c.2678T>G	XP_006710945.1:p.Leu893Ter
XM_011542094.2:c.2777T>G	XP_011540396.1:p.Leu926Ter
XM_011542095.2:c.2387T>G	XP_011540397.1:p.Leu796Ter
XM_017002265.1:c.2738T>G	XP_016857754.1:p.Leu913Ter
XM_017002266.2:c.2501T>G	XP_016857755.1:p.Leu834Ter
XM_017002267.1:c.1646T>G	XP_016857756.1:p.Leu549Ter
XM_017002268.1:c.1646T>G	XP_016857757.1:p.Leu549Ter
NM_001018054.3:c.2687T>G	NP_001018064.1:p.Leu896Ter
NM_004631.5:c.2864T>G MANE Select	NP_004622.2:p.Leu955Ter
NM_017522.5:c.2075T>G	NP_059992.3:p.Leu692Ter
NM_033300.4:c.2354T>G	NP_150643.2:p.Leu785Ter