Canonical Allele Identifier: CA383951886

Gene: LRP6 BCL2L14

Linked Data

• gnomAD v4: 12-12131989-A-G
• MyVariant Identifiers: chr12:g.12284923A>G (hg19) ; chr12:g.12131989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12131989A>G , CM000674.2:g.12131989A>G	GRCh38
NC_000012.11:g.12284923A>G , CM000674.1:g.12284923A>G	GRCh37
NC_000012.10:g.12176190A>G	NCBI36
NG_016168.1:g.139889T>C
NG_016168.2:g.139889T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.3802T>C (LRP6) MANE Select	ENSP00000261349.4:p.Trp1268Arg
ENST00000261349.8:c.3802T>C (LRP6)	ENSP00000261349.4:p.Trp1268Arg
ENST00000298566.2:c.712-6847A>G (BCL2L14)	ENSP00000298566.1:n.712-6847A>G
ENST00000538239.5:c.3396T>C (LRP6)
ENST00000540415.1:n.123T>C (LRP6)
ENST00000543091.1:c.3734-67T>C (LRP6)	ENSP00000442472.1:n.3734-67T>C
NM_002336.2:c.3802T>C (LRP6)	NP_002327.2:p.Trp1268Arg
XM_006719078.2:c.3802T>C (LRP6)	XP_006719141.1:p.Trp1268Arg
XM_011520671.1:c.3349T>C (LRP6)	XP_011518973.1:p.Trp1117Arg
XR_429034.1:n.3935T>C (LRP6)
XR_429035.1:n.3935T>C (LRP6)
XM_006719078.4:c.3802T>C (LRP6)	XP_006719141.1:p.Trp1268Arg
XM_011520671.3:c.3349T>C (LRP6)	XP_011518973.1:p.Trp1117Arg
XR_002957325.1:n.3935T>C (LRP6)
XR_429035.3:n.3935T>C (LRP6)
NM_002336.3:c.3802T>C (LRP6) MANE Select	NP_002327.2:p.Trp1268Arg