Canonical Allele Identifier: CA383946278
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Linked Data

dbSNP Id: rs1405555902

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12164278G>C , CM000674.2:g.12164278G>C GRCh38
NC_000012.11:g.12317212G>C , CM000674.1:g.12317212G>C GRCh37
NC_000012.10:g.12208479G>C NCBI36
NG_016168.1:g.107600C>G
NG_016168.2:g.107600C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261349.9:c.2047C>G (LRP6) MANE Select ENSP00000261349.4:p.Leu683Val
ENST00000261349.8:c.2047C>G (LRP6) ENSP00000261349.4:p.Leu683Val
ENST00000298566.2:c.*25-23027G>C (BCL2L14) ENSP00000298566.1:n.*25-23027G>C
ENST00000538239.5:c.1641C>G (LRP6)
ENST00000543091.1:c.2047C>G (LRP6) ENSP00000442472.1:p.Leu683Val
NM_002336.2:c.2047C>G (LRP6) NP_002327.2:p.Leu683Val
XM_006719078.2:c.2047C>G (LRP6) XP_006719141.1:p.Leu683Val
XM_011520671.1:c.1594C>G (LRP6) XP_011518973.1:p.Leu532Val
XR_429034.1:n.2180C>G (LRP6)
XR_429035.1:n.2180C>G (LRP6)
XM_006719078.4:c.2047C>G (LRP6) XP_006719141.1:p.Leu683Val
XM_011520671.3:c.1594C>G (LRP6) XP_011518973.1:p.Leu532Val
XR_002957325.1:n.2180C>G (LRP6)
XR_429035.3:n.2180C>G (LRP6)
NM_002336.3:c.2047C>G (LRP6) MANE Select NP_002327.2:p.Leu683Val