Canonical Allele Identifier: CA383946278

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs1405555902
• gnomAD v3: 12-12164278-G-C
• gnomAD v4: 12-12164278-G-C
• MyVariant Identifiers: chr12:g.12317212G>C (hg19) ; chr12:g.12164278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12164278G>C , CM000674.2:g.12164278G>C	GRCh38
NC_000012.11:g.12317212G>C , CM000674.1:g.12317212G>C	GRCh37
NC_000012.10:g.12208479G>C	NCBI36
NG_016168.1:g.107600C>G
NG_016168.2:g.107600C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.2047C>G (LRP6) MANE Select	ENSP00000261349.4:p.Leu683Val
ENST00000261349.8:c.2047C>G (LRP6)	ENSP00000261349.4:p.Leu683Val
ENST00000298566.2:c.*25-23027G>C (BCL2L14)	ENSP00000298566.1:n.*25-23027G>C
ENST00000538239.5:c.1641C>G (LRP6)
ENST00000543091.1:c.2047C>G (LRP6)	ENSP00000442472.1:p.Leu683Val
NM_002336.2:c.2047C>G (LRP6)	NP_002327.2:p.Leu683Val
XM_006719078.2:c.2047C>G (LRP6)	XP_006719141.1:p.Leu683Val
XM_011520671.1:c.1594C>G (LRP6)	XP_011518973.1:p.Leu532Val
XR_429034.1:n.2180C>G (LRP6)
XR_429035.1:n.2180C>G (LRP6)
XM_006719078.4:c.2047C>G (LRP6)	XP_006719141.1:p.Leu683Val
XM_011520671.3:c.1594C>G (LRP6)	XP_011518973.1:p.Leu532Val
XR_002957325.1:n.2180C>G (LRP6)
XR_429035.3:n.2180C>G (LRP6)
NM_002336.3:c.2047C>G (LRP6) MANE Select	NP_002327.2:p.Leu683Val