Canonical Allele Identifier: CA13720528
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.12117356A>G
GRCh37 chr12:g.12270290A>G
gnomAD v2:
12:12270290 A / G
gnomAD v3:
12:12117356 A / G
gnomAD v4:
chr12-12117356-A-G
Joint Max Group AF 0.91364141 (EAS)
Genomes Max Group AF 0.91364141 (EAS)
Exomes Max Group AF 0.17768 (NFE)
dbSNP:
2160525
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12117356A>G , CM000674.2:g.12117356A>G GRCh38
NC_000012.11:g.12270290A>G , CM000674.1:g.12270290A>G GRCh37
NC_000012.10:g.12161557A>G NCBI36
NG_016168.1:g.154522T>C
NG_016168.2:g.154522T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261349.9:c.*3770T>C (LRP6) MANE Select ENSP00000261349.4:n.*3770T>C
ENST00000261349.8:c.*3770T>C (LRP6) ENSP00000261349.4:n.*3770T>C
ENST00000298566.2:c.711+2029A>G (BCL2L14) ENSP00000298566.1:n.711+2029A>G
ENST00000538239.5:c.6485T>C (LRP6)
NM_002336.2:c.*3770T>C (LRP6) NP_002327.2:n.*3770T>C
XR_429034.1:n.7706T>C (LRP6)
XR_429035.1:n.7024T>C (LRP6)
XM_006719078.4:c.*3088T>C (LRP6) XP_006719141.1:n.*3088T>C
XM_011520671.3:c.*3770T>C (LRP6) XP_011518973.1:n.*3770T>C
XR_002957325.1:n.7706T>C (LRP6)
XR_429035.3:n.7024T>C (LRP6)
NM_002336.3:c.*3770T>C (LRP6) MANE Select NP_002327.2:n.*3770T>C
Search 100 bp 5'
Search 100 bp 3'