Canonical Allele Identifier: CA381616773

Gene: LRP5

Linked Data

• gnomAD v4: 11-68446442-A-C
• MyVariant Identifiers: chr11:g.68213910A>C (hg19) ; chr11:g.68446442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446442A>C , CM000673.2:g.68446442A>C	GRCh38
NC_000011.9:g.68213910A>C , CM000673.1:g.68213910A>C	GRCh37
NC_000011.8:g.67970486A>C	NCBI36
NG_015835.1:g.138803A>C
NG_015835.2:g.138803A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4495A>C MANE Select	ENSP00000294304.6:p.Asn1499His
ENST00000294304.11:c.4495A>C	ENSP00000294304.6:p.Asn1499His
ENST00000529702.1:c.165A>C
ENST00000529993.5:c.*3101A>C	ENSP00000436652.1:n.*3101A>C
NM_001291902.1:c.2752A>C	NP_001278831.1:p.Asn918His
NM_002335.3:c.4495A>C	NP_002326.2:p.Asn1499His
XM_005273994.2:c.4609A>C	XP_005274051.1:p.Asn1537His
XM_011545029.1:c.4636A>C	XP_011543331.1:p.Asn1546His
XM_011545030.1:c.4522A>C	XP_011543332.1:p.Asn1508His
XM_011545031.1:c.4652A>C	XP_011543333.1:p.Glu1551Ala
XR_949925.1:n.4651A>C
XR_949926.1:n.4667A>C
XM_017017735.1:c.2866A>C	XP_016873224.1:p.Asn956His
XM_017017736.1:c.2149A>C	XP_016873225.1:p.Asn717His
XR_949925.2:n.4651A>C
XR_949926.2:n.4667A>C
NM_002335.4:c.4495A>C MANE Select	NP_002326.2:p.Asn1499His
NM_001291902.2:c.2752A>C	NP_001278831.1:p.Asn918His