Canonical Allele Identifier: CA383951425

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs1479902267
• gnomAD v3: 12-12131887-C-T
• gnomAD v4: 12-12131887-C-T
• MyVariant Identifiers: chr12:g.12284821C>T (hg19) ; chr12:g.12131887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12131887C>T , CM000674.2:g.12131887C>T	GRCh38
NC_000012.11:g.12284821C>T , CM000674.1:g.12284821C>T	GRCh37
NC_000012.10:g.12176088C>T	NCBI36
NG_016168.1:g.139991G>A
NG_016168.2:g.139991G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.3904G>A (LRP6) MANE Select	ENSP00000261349.4:p.Asp1302Asn
ENST00000261349.8:c.3904G>A (LRP6)	ENSP00000261349.4:p.Asp1302Asn
ENST00000298566.2:c.712-6949C>T (BCL2L14)	ENSP00000298566.1:n.712-6949C>T
ENST00000538239.5:c.3498G>A (LRP6)
ENST00000540415.1:n.225G>A (LRP6)
ENST00000543091.1:c.3769G>A (LRP6)	ENSP00000442472.1:p.Asp1257Asn
NM_002336.2:c.3904G>A (LRP6)	NP_002327.2:p.Asp1302Asn
XM_006719078.2:c.3904G>A (LRP6)	XP_006719141.1:p.Asp1302Asn
XM_011520671.1:c.3451G>A (LRP6)	XP_011518973.1:p.Asp1151Asn
XR_429034.1:n.4037G>A (LRP6)
XR_429035.1:n.4037G>A (LRP6)
XM_006719078.4:c.3904G>A (LRP6)	XP_006719141.1:p.Asp1302Asn
XM_011520671.3:c.3451G>A (LRP6)	XP_011518973.1:p.Asp1151Asn
XR_002957325.1:n.4037G>A (LRP6)
XR_429035.3:n.4037G>A (LRP6)
NM_002336.3:c.3904G>A (LRP6) MANE Select	NP_002327.2:p.Asp1302Asn