Canonical Allele Identifier: CA383951877
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12131985C>G , CM000674.2:g.12131985C>G GRCh38
NC_000012.11:g.12284919C>G , CM000674.1:g.12284919C>G GRCh37
NC_000012.10:g.12176186C>G NCBI36
NG_016168.1:g.139893G>C
NG_016168.2:g.139893G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261349.9:c.3806G>C (LRP6) MANE Select ENSP00000261349.4:p.Arg1269Pro
ENST00000261349.8:c.3806G>C (LRP6) ENSP00000261349.4:p.Arg1269Pro
ENST00000298566.2:c.712-6851C>G (BCL2L14) ENSP00000298566.1:n.712-6851C>G
ENST00000538239.5:c.3400G>C (LRP6)
ENST00000540415.1:n.127G>C (LRP6)
ENST00000543091.1:c.3734-63G>C (LRP6) ENSP00000442472.1:n.3734-63G>C
NM_002336.2:c.3806G>C (LRP6) NP_002327.2:p.Arg1269Pro
XM_006719078.2:c.3806G>C (LRP6) XP_006719141.1:p.Arg1269Pro
XM_011520671.1:c.3353G>C (LRP6) XP_011518973.1:p.Arg1118Pro
XR_429034.1:n.3939G>C (LRP6)
XR_429035.1:n.3939G>C (LRP6)
XM_006719078.4:c.3806G>C (LRP6) XP_006719141.1:p.Arg1269Pro
XM_011520671.3:c.3353G>C (LRP6) XP_011518973.1:p.Arg1118Pro
XR_002957325.1:n.3939G>C (LRP6)
XR_429035.3:n.3939G>C (LRP6)
NM_002336.3:c.3806G>C (LRP6) MANE Select NP_002327.2:p.Arg1269Pro