Canonical Allele Identifier: CA232997137
Community Standard Title: NM_002336.3(LRP6):c.4449+178T>C
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12125118A>G , CM000674.2:g.12125118A>G GRCh38
NC_000012.11:g.12278052A>G , CM000674.1:g.12278052A>G GRCh37
NC_000012.10:g.12169319A>G NCBI36
NG_016168.1:g.146760T>C
NG_016168.2:g.146760T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002336.3:c.4449+178T>C (LRP6) MANE Select NP_002327.2:n.4449+178T>C
ENST00000261349.9:c.4449+178T>C (LRP6) MANE Select ENSP00000261349.4:n.4449+178T>C
NM_002336.2:c.4449+178T>C (LRP6) NP_002327.2:n.4449+178T>C
ENST00000261349.8:c.4449+178T>C (LRP6) ENSP00000261349.4:n.4449+178T>C
ENST00000298566.2:c.711+9791A>G (BCL2L14) ENSP00000298566.1:n.711+9791A>G
ENST00000538239.5:c.4043+178T>C (LRP6)
ENST00000540527.5:c.122-456T>C (LRP6) ENSP00000443239.1:n.122-456T>C
ENST00000543091.1:c.4314+178T>C (LRP6) ENSP00000442472.1:n.4314+178T>C
XM_006719078.2:c.4449+178T>C (LRP6) XP_006719141.1:n.4449+178T>C
XM_006719078.4:c.4449+178T>C (LRP6) XP_006719141.1:n.4449+178T>C
XM_011520671.1:c.3996+178T>C (LRP6) XP_011518973.1:n.3996+178T>C
XM_011520671.3:c.3996+178T>C (LRP6) XP_011518973.1:n.3996+178T>C
XR_002957325.1:n.4582+178T>C (LRP6)
XR_429034.1:n.4582+178T>C (LRP6)
XR_429035.1:n.4582+178T>C (LRP6)
XR_429035.3:n.4582+178T>C (LRP6)