Canonical Allele Identifier: CA381617858

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68216297T>G (hg19) ; chr11:g.68448829T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448829T>G , CM000673.2:g.68448829T>G	GRCh38
NC_000011.9:g.68216297T>G , CM000673.1:g.68216297T>G	GRCh37
NC_000011.8:g.67972873T>G	NCBI36
NG_015835.1:g.141190T>G
NG_015835.2:g.141190T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4607T>G MANE Select	ENSP00000294304.6:p.Met1536Arg
ENST00000294304.11:c.4607T>G	ENSP00000294304.6:p.Met1536Arg
ENST00000529481.1:n.198T>G
ENST00000529702.1:c.277T>G
ENST00000529993.5:c.*3213T>G	ENSP00000436652.1:n.*3213T>G
NM_001291902.1:c.2864T>G	NP_001278831.1:p.Met955Arg
NM_002335.3:c.4607T>G	NP_002326.2:p.Met1536Arg
XM_005273994.2:c.4721T>G	XP_005274051.1:p.Met1574Arg
XM_011545029.1:c.4748T>G	XP_011543331.1:p.Met1583Arg
XM_011545030.1:c.4634T>G	XP_011543332.1:p.Met1545Arg
XM_011545031.1:c.4764T>G	XP_011543333.1:p.Asn1588Lys
XR_949925.1:n.4994T>G
XR_949926.1:n.5010T>G
XM_017017735.1:c.2978T>G	XP_016873224.1:p.Met993Arg
XM_017017736.1:c.2261T>G	XP_016873225.1:p.Met754Arg
XR_949925.2:n.4994T>G
XR_949926.2:n.5010T>G
NM_002335.4:c.4607T>G MANE Select	NP_002326.2:p.Met1536Arg
NM_001291902.2:c.2864T>G	NP_001278831.1:p.Met955Arg