Canonical Allele Identifier: CA6455103
Gene: LRP6 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1012672

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12131981G>A , CM000674.2:g.12131981G>A GRCh38
NC_000012.11:g.12284915G>A , CM000674.1:g.12284915G>A GRCh37
NC_000012.10:g.12176182G>A NCBI36
NG_016168.1:g.139897C>T
NG_016168.2:g.139897C>T

Transcript Alleles

HGVS Amino-acid change
NM_002336.2:c.3810C>T VV NP_002327.2:p.Cys1270=
XM_006719078.2:c.3810C>T XP_006719141.1:p.Cys1270=
XM_011520671.1:c.3357C>T XP_011518973.1:p.Cys1119=
XR_429034.1:n.3943C>T
XR_429035.1:n.3943C>T
XM_006719078.4:c.3810C>T
XM_011520671.3:c.3357C>T
XR_002957325.1:n.3943C>T
XR_429035.3:n.3943C>T
NM_002336.3:c.3810C>T VV MANE Preferred
ENST00000261349.8:c.3810C>T ENSP00000261349.4:p.Cys1270=
ENST00000298566.2:c.712-6855G>A ENSP00000298566.1:p.=
ENST00000538239.5:n.3404C>T
ENST00000540415.1:n.131C>T
ENST00000543091.1:c.3734-59C>T ENSP00000442472.1:p.=