Canonical Allele Identifier: CA6150412

Gene: LRP5

Linked Data

• ClinVar Variation Id: 3010415
• ClinVar RCV Id: RCV003867590
• dbSNP Id: rs747832451
• ExAC: 11:68213911 A / G
• gnomAD v2: 11-68213911-A-G
• gnomAD v3: 11-68446443-A-G
• gnomAD v4: 11-68446443-A-G
• MyVariant Identifiers: chr11:g.68213911A>G (hg19) ; chr11:g.68446443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446443A>G , CM000673.2:g.68446443A>G	GRCh38
NC_000011.9:g.68213911A>G , CM000673.1:g.68213911A>G	GRCh37
NC_000011.8:g.67970487A>G	NCBI36
NG_015835.1:g.138804A>G
NG_015835.2:g.138804A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4496A>G MANE Select	ENSP00000294304.6:p.Asn1499Ser
ENST00000294304.11:c.4496A>G	ENSP00000294304.6:p.Asn1499Ser
ENST00000529702.1:c.166A>G
ENST00000529993.5:c.*3102A>G	ENSP00000436652.1:n.*3102A>G
NM_001291902.1:c.2753A>G	NP_001278831.1:p.Asn918Ser
NM_002335.3:c.4496A>G	NP_002326.2:p.Asn1499Ser
XM_005273994.2:c.4610A>G	XP_005274051.1:p.Asn1537Ser
XM_011545029.1:c.4637A>G	XP_011543331.1:p.Asn1546Ser
XM_011545030.1:c.4523A>G	XP_011543332.1:p.Asn1508Ser
XM_011545031.1:c.4653A>G	XP_011543333.1:p.Glu1551=
XR_949925.1:n.4652A>G
XR_949926.1:n.4668A>G
XM_017017735.1:c.2867A>G	XP_016873224.1:p.Asn956Ser
XM_017017736.1:c.2150A>G	XP_016873225.1:p.Asn717Ser
XR_949925.2:n.4652A>G
XR_949926.2:n.4668A>G
NM_002335.4:c.4496A>G MANE Select	NP_002326.2:p.Asn1499Ser
NM_001291902.2:c.2753A>G	NP_001278831.1:p.Asn918Ser