Canonical Allele Identifier: CA6455142
Community Standard Title: NM_002336.3(LRP6):c.3616C>G (p.Pro1206Ala)
Gene: LRP6 HGNC NCBI
BCL2L14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12135292G>C , CM000674.2:g.12135292G>C GRCh38
NC_000012.11:g.12288226G>C , CM000674.1:g.12288226G>C GRCh37
NC_000012.10:g.12179493G>C NCBI36
NG_016168.1:g.136586C>G
NG_016168.2:g.136586C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002336.3:c.3616C>G (LRP6) MANE Select NP_002327.2:p.Pro1206Ala
ENST00000261349.9:c.3616C>G (LRP6) MANE Select ENSP00000261349.4:p.Pro1206Ala
NM_002336.2:c.3616C>G (LRP6) NP_002327.2:p.Pro1206Ala
ENST00000261349.8:c.3616C>G (LRP6) ENSP00000261349.4:p.Pro1206Ala
ENST00000298566.2:c.712-3544G>C (BCL2L14) ENSP00000298566.1:n.712-3544G>C
ENST00000538239.5:c.3210C>G (LRP6)
ENST00000543091.1:c.3616C>G (LRP6) ENSP00000442472.1:p.Pro1206Ala
XM_006719078.2:c.3616C>G (LRP6) XP_006719141.1:p.Pro1206Ala
XM_006719078.4:c.3616C>G (LRP6) XP_006719141.1:p.Pro1206Ala
XM_011520671.1:c.3163C>G (LRP6) XP_011518973.1:p.Pro1055Ala
XM_011520671.3:c.3163C>G (LRP6) XP_011518973.1:p.Pro1055Ala
XR_002957325.1:n.3749C>G (LRP6)
XR_429034.1:n.3749C>G (LRP6)
XR_429035.1:n.3749C>G (LRP6)
XR_429035.3:n.3749C>G (LRP6)