Canonical Allele Identifier: CA684603775

Gene: LRP6

Linked Data

• dbSNP Id: rs10845498
• gnomAD v3: 12-12241640-G-C
• gnomAD v4: 12-12241640-G-C
• MyVariant Identifiers: chr12:g.12394574G>C (hg19) ; chr12:g.12241640G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12241640G>C , CM000674.2:g.12241640G>C	GRCh38
NC_000012.11:g.12394574G>C , CM000674.1:g.12394574G>C	GRCh37
NC_000012.10:g.12285841G>C	NCBI36
NG_016168.1:g.30238C>G
NG_016168.2:g.30238C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261349.9:c.449+2622C>G MANE Select	ENSP00000261349.4:n.449+2622C>G
ENST00000261349.8:c.449+2622C>G	ENSP00000261349.4:n.449+2622C>G
ENST00000535731.1:c.-5+25041C>G	ENSP00000439765.1:n.-5+25041C>G
ENST00000538239.5:c.43+2622C>G
ENST00000543091.1:c.449+2622C>G	ENSP00000442472.1:n.449+2622C>G
NM_002336.2:c.449+2622C>G	NP_002327.2:n.449+2622C>G
XM_006719078.2:c.449+2622C>G	XP_006719141.1:n.449+2622C>G
XM_011520671.1:c.-5+25041C>G	XP_011518973.1:n.-5+25041C>G
XR_429034.1:n.582+2622C>G
XR_429035.1:n.582+2622C>G
XM_006719078.4:c.449+2622C>G	XP_006719141.1:n.449+2622C>G
XM_011520671.3:c.-5+25041C>G	XP_011518973.1:n.-5+25041C>G
XR_002957325.1:n.582+2622C>G
XR_429035.3:n.582+2622C>G
NM_002336.3:c.449+2622C>G MANE Select	NP_002327.2:n.449+2622C>G