Canonical Allele Identifier: CA939123815

Gene: LRP5

Linked Data

• dbSNP Id: rs2098614374
• gnomAD v3: 11-68347785-C-G
• gnomAD v4: 11-68347785-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68347785C>G , CM000673.2:g.68347785C>G	GRCh38
NC_000011.9:g.68115253C>G , CM000673.1:g.68115253C>G	GRCh37
NC_000011.8:g.67871829C>G	NCBI36
NG_015835.1:g.40146C>G
NG_015835.2:g.40146C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.92-62C>G MANE Select	ENSP00000294304.6:n.92-62C>G
ENST00000294304.11:c.92-62C>G	ENSP00000294304.6:n.92-62C>G
ENST00000529993.5:c.92-62C>G	ENSP00000436652.1:n.92-62C>G
NM_001291902.1:c.-1674-62C>G	NP_001278831.1:n.-1674-62C>G
NM_002335.3:c.92-62C>G	NP_002326.2:n.92-62C>G
XM_005273994.2:c.92-62C>G	XP_005274051.1:n.92-62C>G
XM_011545029.1:c.119-62C>G	XP_011543331.1:n.119-62C>G
XM_011545030.1:c.119-62C>G	XP_011543332.1:n.119-62C>G
XM_011545031.1:c.119-62C>G	XP_011543333.1:n.119-62C>G
XR_949925.1:n.134-62C>G
XR_949926.1:n.134-62C>G
XR_001747874.1:n.134-62C>G
XR_949925.2:n.134-62C>G
XR_949926.2:n.134-62C>G
NM_002335.4:c.92-62C>G MANE Select	NP_002326.2:n.92-62C>G
NM_001291902.2:c.-1674-62C>G	NP_001278831.1:n.-1674-62C>G