Canonical Allele Identifier: CA417903732

Gene: LRP8

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53266643G>A , CM000663.2:g.53266643G>A	GRCh38
NC_000001.10:g.53732315G>A , CM000663.1:g.53732315G>A	GRCh37
NC_000001.9:g.53504903G>A	NCBI36
NG_011517.2:g.66507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.1257C>T MANE Select	ENSP00000303634.6:p.Gly419=
ENST00000347547.7:c.747C>T	ENSP00000334522.2:p.Gly249=
ENST00000465675.6:c.891C>T	ENSP00000437009.2:p.Gly297=
ENST00000475501.2:c.120C>T	ENSP00000436651.2:p.Gly40=
ENST00000480045.6:c.1326C>T	ENSP00000433554.2:p.Gly442=
ENST00000653169.1:c.31C>T
ENST00000653217.1:c.792C>T	ENSP00000499777.1:p.Gly264=
ENST00000653810.1:c.155C>T
ENST00000654834.1:n.717C>T
ENST00000655704.1:n.1339C>T
ENST00000656486.1:c.387C>T	ENSP00000499708.1:p.Gly129=
ENST00000657895.1:c.744C>T	ENSP00000499764.1:p.Gly248=
ENST00000658277.1:c.492C>T	ENSP00000499550.1:p.Gly164=
ENST00000658404.1:n.762C>T
ENST00000659993.1:c.1257C>T	ENSP00000499697.1:p.Gly419=
ENST00000661457.1:c.*878C>T	ENSP00000499547.1:n.*878C>T
ENST00000662198.1:c.870C>T	ENSP00000499355.1:p.Gly290=
ENST00000662604.1:c.741C>T	ENSP00000499486.1:p.Gly247=
ENST00000667377.1:c.1257C>T	ENSP00000499405.1:p.Gly419=
ENST00000668071.1:c.841C>T
ENST00000668448.1:c.1257C>T	ENSP00000499273.1:p.Gly419=
ENST00000668991.1:n.970C>T
ENST00000669432.1:n.5667C>T
ENST00000306052.10:c.1257C>T	ENSP00000303634.6:p.Gly419=
ENST00000347547.6:c.747C>T	ENSP00000334522.2:p.Gly249=
ENST00000354412.7:c.870C>T	ENSP00000346391.3:p.Gly290=
ENST00000371454.6:c.1257C>T	ENSP00000360509.2:p.Gly419=
ENST00000459674.5:n.1956C>T
ENST00000465675.5:c.-85C>T	ENSP00000437009.1:n.-85C>T
ENST00000475501.1:c.323C>T
ENST00000480045.5:c.*199C>T	ENSP00000433554.1:n.*199C>T
ENST00000613948.4:c.870C>T	ENSP00000480025.1:p.Gly290=
NM_001018054.2:c.1257C>T	NP_001018064.1:p.Gly419=
NM_004631.4:c.1257C>T	NP_004622.2:p.Gly419=
NM_017522.4:c.870C>T	NP_059992.3:p.Gly290=
NM_033300.3:c.747C>T	NP_150643.2:p.Gly249=
XM_005271173.2:c.1296C>T	XP_005271230.1:p.Gly432=
XM_005271174.2:c.909C>T	XP_005271231.1:p.Gly303=
XM_005271175.2:c.870C>T	XP_005271232.1:p.Gly290=
XM_006710881.2:c.1296C>T	XP_006710944.1:p.Gly432=
XM_006710882.2:c.1296C>T	XP_006710945.1:p.Gly432=
XM_011542094.1:c.1170C>T	XP_011540396.1:p.Gly390=
XM_011542095.1:c.780C>T	XP_011540397.1:p.Gly260=
XM_011542096.1:c.1296C>T	XP_011540398.1:p.Gly432=
XM_011542097.1:c.1383C>T	XP_011540399.1:p.Gly461=
XR_947354.1:n.1553-453G>A
XR_947355.1:n.699-453G>A
XR_947356.1:n.1481-453G>A
XR_947357.1:n.1387-453G>A
XR_947358.1:n.533-453G>A
XR_947359.1:n.1552+630G>A
XR_947360.1:n.1553-453G>A
XM_005271173.4:c.1296C>T	XP_005271230.1:p.Gly432=
XM_005271174.3:c.909C>T	XP_005271231.1:p.Gly303=
XM_005271175.3:c.870C>T	XP_005271232.1:p.Gly290=
XM_006710881.4:c.1296C>T	XP_006710944.1:p.Gly432=
XM_006710882.4:c.1296C>T	XP_006710945.1:p.Gly432=
XM_011542094.2:c.1170C>T	XP_011540396.1:p.Gly390=
XM_011542095.2:c.780C>T	XP_011540397.1:p.Gly260=
XM_011542096.2:c.1296C>T	XP_011540398.1:p.Gly432=
XM_017002265.1:c.1131C>T	XP_016857754.1:p.Gly377=
XM_017002266.2:c.1296C>T	XP_016857755.1:p.Gly432=
XM_017002267.1:c.39C>T	XP_016857756.1:p.Gly13=
XM_017002268.1:c.39C>T	XP_016857757.1:p.Gly13=
XR_947354.2:n.1553-453G>A
XR_947355.2:n.699-453G>A
XR_947356.2:n.1481-453G>A
XR_947357.2:n.1387-453G>A
XR_947358.2:n.533-453G>A
XR_947359.2:n.1552+630G>A
NM_001018054.3:c.1257C>T	NP_001018064.1:p.Gly419=
NM_004631.5:c.1257C>T MANE Select	NP_004622.2:p.Gly419=
NM_017522.5:c.870C>T	NP_059992.3:p.Gly290=
NM_033300.4:c.747C>T	NP_150643.2:p.Gly249=