Canonical Allele Identifier: CA6149432

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2981875
• ClinVar RCV Id: RCV003840457
• dbSNP Id: rs771938003
• ExAC: 11:68171181 G / A
• gnomAD v3: 11-68403713-G-A
• gnomAD v4: 11-68403713-G-A
• MyVariant Identifiers: chr11:g.68171181G>A (hg19) ; chr11:g.68403713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403713G>A , CM000673.2:g.68403713G>A	GRCh38
NC_000011.9:g.68171181G>A , CM000673.1:g.68171181G>A	GRCh37
NC_000011.8:g.67927757G>A	NCBI36
NG_015835.1:g.96074G>A
NG_015835.2:g.96074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+14G>A MANE Select	ENSP00000294304.6:n.1801+14G>A
ENST00000294304.11:c.1801+14G>A	ENSP00000294304.6:n.1801+14G>A
ENST00000529993.5:c.*213+14G>A	ENSP00000436652.1:n.*213+14G>A
NM_001291902.1:c.-137+14G>A	NP_001278831.1:n.-137+14G>A
NM_002335.3:c.1801+14G>A	NP_002326.2:n.1801+14G>A
XM_005273994.2:c.1801+14G>A	XP_005274051.1:n.1801+14G>A
XM_011545029.1:c.1828+14G>A	XP_011543331.1:n.1828+14G>A
XM_011545030.1:c.1828+14G>A	XP_011543332.1:n.1828+14G>A
XM_011545031.1:c.1828+14G>A	XP_011543333.1:n.1828+14G>A
XR_949925.1:n.1843+14G>A
XR_949926.1:n.1843+14G>A
XR_001747874.1:n.1843+14G>A
XR_949925.2:n.1843+14G>A
XR_949926.2:n.1843+14G>A
NM_002335.4:c.1801+14G>A MANE Select	NP_002326.2:n.1801+14G>A
NM_001291902.2:c.-137+14G>A	NP_001278831.1:n.-137+14G>A