Canonical Allele Identifier: CA232989089
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Linked Data

dbSNP Id: rs866789963
MyVariant Identifiers: chr12:g.12150835C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12150835C>A , CM000674.2:g.12150835C>A GRCh38
NG_016168.1:g.121043G>T
NG_016168.2:g.121043G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261349.9:c.2994+1G>T (LRP6) MANE Select ENSP00000261349.4:n.2994+1G>T
ENST00000261349.8:c.2994+1G>T (LRP6) ENSP00000261349.4:n.2994+1G>T
ENST00000298566.2:c.*24+11856C>A (BCL2L14) ENSP00000298566.1:n.*24+11856C>A
ENST00000538239.5:c.2588+1G>T (LRP6)
ENST00000543091.1:c.2994+1G>T (LRP6) ENSP00000442472.1:n.2994+1G>T
NM_002336.2:c.2994+1G>T (LRP6) NP_002327.2:n.2994+1G>T
XM_006719078.2:c.2994+1G>T (LRP6) XP_006719141.1:n.2994+1G>T
XM_011520671.1:c.2541+1G>T (LRP6) XP_011518973.1:n.2541+1G>T
XR_429034.1:n.3127+1G>T (LRP6)
XR_429035.1:n.3127+1G>T (LRP6)
XM_006719078.4:c.2994+1G>T (LRP6) XP_006719141.1:n.2994+1G>T
XM_011520671.3:c.2541+1G>T (LRP6) XP_011518973.1:n.2541+1G>T
XR_002957325.1:n.3127+1G>T (LRP6)
XR_429035.3:n.3127+1G>T (LRP6)
NM_002336.3:c.2994+1G>T (LRP6) MANE Select NP_002327.2:n.2994+1G>T