Canonical Allele Identifier: CA2016768267
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Linked Data

dbSNP Id: rs1565537286

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12131812T>G , CM000674.2:g.12131812T>G GRCh38
NC_000012.11:g.12284746T>G , CM000674.1:g.12284746T>G GRCh37
NC_000012.10:g.12176013T>G NCBI36
NG_016168.1:g.140066A>C
NG_016168.2:g.140066A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261349.9:c.3970+9A>C (LRP6) MANE Select ENSP00000261349.4:n.3970+9A>C
ENST00000261349.8:c.3970+9A>C (LRP6) ENSP00000261349.4:n.3970+9A>C
ENST00000298566.2:c.712-7024T>G (BCL2L14) ENSP00000298566.1:n.712-7024T>G
ENST00000538239.5:c.3564+9A>C (LRP6)
ENST00000540415.1:n.291+9A>C (LRP6)
ENST00000540527.5:c.10+9A>C (LRP6) ENSP00000443239.1:n.10+9A>C
ENST00000543091.1:c.3835+9A>C (LRP6) ENSP00000442472.1:n.3835+9A>C
NM_002336.2:c.3970+9A>C (LRP6) NP_002327.2:n.3970+9A>C
XM_006719078.2:c.3970+9A>C (LRP6) XP_006719141.1:n.3970+9A>C
XM_011520671.1:c.3517+9A>C (LRP6) XP_011518973.1:n.3517+9A>C
XR_429034.1:n.4103+9A>C (LRP6)
XR_429035.1:n.4103+9A>C (LRP6)
XM_006719078.4:c.3970+9A>C (LRP6) XP_006719141.1:n.3970+9A>C
XM_011520671.3:c.3517+9A>C (LRP6) XP_011518973.1:n.3517+9A>C
XR_002957325.1:n.4103+9A>C (LRP6)
XR_429035.3:n.4103+9A>C (LRP6)
NM_002336.3:c.3970+9A>C (LRP6) MANE Select NP_002327.2:n.3970+9A>C