Canonical Allele Identifier: CA6455082

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs755897175
• ExAC: 12:12284723 T / G
• gnomAD v2: 12-12284723-T-G
• gnomAD v4: 12-12131789-T-G
• MyVariant Identifiers: chr12:g.12284723T>G (hg19) ; chr12:g.12131789T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12131789T>G , CM000674.2:g.12131789T>G	GRCh38
NC_000012.11:g.12284723T>G , CM000674.1:g.12284723T>G	GRCh37
NC_000012.10:g.12175990T>G	NCBI36
NG_016168.1:g.140089A>C
NG_016168.2:g.140089A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261349.9:c.3970+32A>C (LRP6) MANE Select	ENSP00000261349.4:n.3970+32A>C
ENST00000261349.8:c.3970+32A>C (LRP6)	ENSP00000261349.4:n.3970+32A>C
ENST00000298566.2:c.712-7047T>G (BCL2L14)	ENSP00000298566.1:n.712-7047T>G
ENST00000538239.5:c.3564+32A>C (LRP6)
ENST00000540415.1:n.291+32A>C (LRP6)
ENST00000540527.5:c.10+32A>C (LRP6)	ENSP00000443239.1:n.10+32A>C
ENST00000543091.1:c.3835+32A>C (LRP6)	ENSP00000442472.1:n.3835+32A>C
NM_002336.2:c.3970+32A>C (LRP6)	NP_002327.2:n.3970+32A>C
XM_006719078.2:c.3970+32A>C (LRP6)	XP_006719141.1:n.3970+32A>C
XM_011520671.1:c.3517+32A>C (LRP6)	XP_011518973.1:n.3517+32A>C
XR_429034.1:n.4103+32A>C (LRP6)
XR_429035.1:n.4103+32A>C (LRP6)
XM_006719078.4:c.3970+32A>C (LRP6)	XP_006719141.1:n.3970+32A>C
XM_011520671.3:c.3517+32A>C (LRP6)	XP_011518973.1:n.3517+32A>C
XR_002957325.1:n.4103+32A>C (LRP6)
XR_429035.3:n.4103+32A>C (LRP6)
NM_002336.3:c.3970+32A>C (LRP6) MANE Select	NP_002327.2:n.3970+32A>C