Canonical Allele Identifier: CA684482517
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Linked Data

dbSNP Id: rs1460315284
MyVariant Identifiers: chr12:g.12131785G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12131785G>C , CM000674.2:g.12131785G>C GRCh38
NC_000012.11:g.12284719G>C , CM000674.1:g.12284719G>C GRCh37
NC_000012.10:g.12175986G>C NCBI36
NG_016168.1:g.140093C>G
NG_016168.2:g.140093C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261349.9:c.3970+36C>G (LRP6) MANE Select ENSP00000261349.4:n.3970+36C>G
ENST00000261349.8:c.3970+36C>G (LRP6) ENSP00000261349.4:n.3970+36C>G
ENST00000298566.2:c.712-7051G>C (BCL2L14) ENSP00000298566.1:n.712-7051G>C
ENST00000538239.5:c.3564+36C>G (LRP6)
ENST00000540415.1:n.291+36C>G (LRP6)
ENST00000540527.5:c.10+36C>G (LRP6) ENSP00000443239.1:n.10+36C>G
ENST00000543091.1:c.3835+36C>G (LRP6) ENSP00000442472.1:n.3835+36C>G
NM_002336.2:c.3970+36C>G (LRP6) NP_002327.2:n.3970+36C>G
XM_006719078.2:c.3970+36C>G (LRP6) XP_006719141.1:n.3970+36C>G
XM_011520671.1:c.3517+36C>G (LRP6) XP_011518973.1:n.3517+36C>G
XR_429034.1:n.4103+36C>G (LRP6)
XR_429035.1:n.4103+36C>G (LRP6)
XM_006719078.4:c.3970+36C>G (LRP6) XP_006719141.1:n.3970+36C>G
XM_011520671.3:c.3517+36C>G (LRP6) XP_011518973.1:n.3517+36C>G
XR_002957325.1:n.4103+36C>G (LRP6)
XR_429035.3:n.4103+36C>G (LRP6)
NM_002336.3:c.3970+36C>G (LRP6) MANE Select NP_002327.2:n.3970+36C>G