Canonical Allele Identifier: CA6455108

Gene: LRP6 BCL2L14

Linked Data

• dbSNP Id: rs549373552
• ExAC: 12:12284935 T / C
• gnomAD v2: 12-12284935-T-C
• gnomAD v3: 12-12132001-T-C
• gnomAD v4: 12-12132001-T-C
• MyVariant Identifiers: chr12:g.12284935T>C (hg19) ; chr12:g.12132001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12132001T>C , CM000674.2:g.12132001T>C	GRCh38
NC_000012.11:g.12284935T>C , CM000674.1:g.12284935T>C	GRCh37
NC_000012.10:g.12176202T>C	NCBI36
NG_016168.1:g.139877A>G
NG_016168.2:g.139877A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.3790A>G (LRP6) MANE Select	ENSP00000261349.4:p.Ile1264Val
ENST00000261349.8:c.3790A>G (LRP6)	ENSP00000261349.4:p.Ile1264Val
ENST00000298566.2:c.712-6835T>C (BCL2L14)	ENSP00000298566.1:n.712-6835T>C
ENST00000538239.5:c.3384A>G (LRP6)
ENST00000540415.1:n.111A>G (LRP6)
ENST00000543091.1:c.3734-79A>G (LRP6)	ENSP00000442472.1:n.3734-79A>G
NM_002336.2:c.3790A>G (LRP6)	NP_002327.2:p.Ile1264Val
XM_006719078.2:c.3790A>G (LRP6)	XP_006719141.1:p.Ile1264Val
XM_011520671.1:c.3337A>G (LRP6)	XP_011518973.1:p.Ile1113Val
XR_429034.1:n.3923A>G (LRP6)
XR_429035.1:n.3923A>G (LRP6)
XM_006719078.4:c.3790A>G (LRP6)	XP_006719141.1:p.Ile1264Val
XM_011520671.3:c.3337A>G (LRP6)	XP_011518973.1:p.Ile1113Val
XR_002957325.1:n.3923A>G (LRP6)
XR_429035.3:n.3923A>G (LRP6)
NM_002336.3:c.3790A>G (LRP6) MANE Select	NP_002327.2:p.Ile1264Val