Canonical Allele Identifier: CA383951243

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs778018118
• gnomAD v2: 12-12284780-G-C
• gnomAD v4: 12-12131846-G-C
• MyVariant Identifiers: chr12:g.12284780G>C (hg19) ; chr12:g.12131846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12131846G>C , CM000674.2:g.12131846G>C	GRCh38
NC_000012.11:g.12284780G>C , CM000674.1:g.12284780G>C	GRCh37
NC_000012.10:g.12176047G>C	NCBI36
NG_016168.1:g.140032C>G
NG_016168.2:g.140032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.3945C>G (LRP6) MANE Select	ENSP00000261349.4:p.Asp1315Glu
ENST00000261349.8:c.3945C>G (LRP6)	ENSP00000261349.4:p.Asp1315Glu
ENST00000298566.2:c.712-6990G>C (BCL2L14)	ENSP00000298566.1:n.712-6990G>C
ENST00000538239.5:c.3539C>G (LRP6)
ENST00000540415.1:n.266C>G (LRP6)
ENST00000543091.1:c.3810C>G (LRP6)	ENSP00000442472.1:p.Asp1270Glu
NM_002336.2:c.3945C>G (LRP6)	NP_002327.2:p.Asp1315Glu
XM_006719078.2:c.3945C>G (LRP6)	XP_006719141.1:p.Asp1315Glu
XM_011520671.1:c.3492C>G (LRP6)	XP_011518973.1:p.Asp1164Glu
XR_429034.1:n.4078C>G (LRP6)
XR_429035.1:n.4078C>G (LRP6)
XM_006719078.4:c.3945C>G (LRP6)	XP_006719141.1:p.Asp1315Glu
XM_011520671.3:c.3492C>G (LRP6)	XP_011518973.1:p.Asp1164Glu
XR_002957325.1:n.4078C>G (LRP6)
XR_429035.3:n.4078C>G (LRP6)
NM_002336.3:c.3945C>G (LRP6) MANE Select	NP_002327.2:p.Asp1315Glu