Canonical Allele Identifier: CA381611907

Gene: LRP5

Linked Data

• gnomAD v4: 11-68357780-C-G
• MyVariant Identifiers: chr11:g.68125248C>G (hg19) ; chr11:g.68357780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357780C>G , CM000673.2:g.68357780C>G	GRCh38
NC_000011.9:g.68125248C>G , CM000673.1:g.68125248C>G	GRCh37
NC_000011.8:g.67881824C>G	NCBI36
NG_015835.1:g.50141C>G
NG_015835.2:g.50141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.619C>G MANE Select	ENSP00000294304.6:p.Gln207Glu
ENST00000294304.11:c.619C>G	ENSP00000294304.6:p.Gln207Glu
ENST00000529993.5:c.619C>G	ENSP00000436652.1:p.Gln207Glu
NM_001291902.1:c.-1147C>G	NP_001278831.1:n.-1147C>G
NM_002335.3:c.619C>G	NP_002326.2:p.Gln207Glu
XM_005273994.2:c.619C>G	XP_005274051.1:p.Gln207Glu
XM_011545029.1:c.646C>G	XP_011543331.1:p.Gln216Glu
XM_011545030.1:c.646C>G	XP_011543332.1:p.Gln216Glu
XM_011545031.1:c.646C>G	XP_011543333.1:p.Gln216Glu
XR_949925.1:n.661C>G
XR_949926.1:n.661C>G
XR_001747874.1:n.661C>G
XR_949925.2:n.661C>G
XR_949926.2:n.661C>G
NM_002335.4:c.619C>G MANE Select	NP_002326.2:p.Gln207Glu
NM_001291902.2:c.-1147C>G	NP_001278831.1:n.-1147C>G