Canonical Allele Identifier: CA381616799

Gene: LRP5

Linked Data

• ClinVar Variation Id: 943506
• ClinVar RCV Id: RCV001213705
• dbSNP Id: rs1422985053
• gnomAD v2: 11-68213914-C-T
• gnomAD v3: 11-68446446-C-T
• gnomAD v4: 11-68446446-C-T
• MyVariant Identifiers: chr11:g.68213914C>T (hg19) ; chr11:g.68446446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446446C>T , CM000673.2:g.68446446C>T	GRCh38
NC_000011.9:g.68213914C>T , CM000673.1:g.68213914C>T	GRCh37
NC_000011.8:g.67970490C>T	NCBI36
NG_015835.1:g.138807C>T
NG_015835.2:g.138807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4499C>T MANE Select	ENSP00000294304.6:p.Pro1500Leu
ENST00000294304.11:c.4499C>T	ENSP00000294304.6:p.Pro1500Leu
ENST00000529702.1:c.169C>T
ENST00000529993.5:c.*3105C>T	ENSP00000436652.1:n.*3105C>T
NM_001291902.1:c.2756C>T	NP_001278831.1:p.Pro919Leu
NM_002335.3:c.4499C>T	NP_002326.2:p.Pro1500Leu
XM_005273994.2:c.4613C>T	XP_005274051.1:p.Pro1538Leu
XM_011545029.1:c.4640C>T	XP_011543331.1:p.Pro1547Leu
XM_011545030.1:c.4526C>T	XP_011543332.1:p.Pro1509Leu
XM_011545031.1:c.4656C>T	XP_011543333.1:p.Pro1552=
XR_949925.1:n.4655C>T
XR_949926.1:n.4671C>T
XM_017017735.1:c.2870C>T	XP_016873224.1:p.Pro957Leu
XM_017017736.1:c.2153C>T	XP_016873225.1:p.Pro718Leu
XR_949925.2:n.4655C>T
XR_949926.2:n.4671C>T
NM_002335.4:c.4499C>T MANE Select	NP_002326.2:p.Pro1500Leu
NM_001291902.2:c.2756C>T	NP_001278831.1:p.Pro919Leu