Canonical Allele Identifier: CA224260613

Gene: LRP5

Linked Data

• dbSNP Id: rs960299131
• gnomAD v2: 11-68216197-G-A
• gnomAD v3: 11-68448729-G-A
• gnomAD v4: 11-68448729-G-A
• COSMIC: COSN15289811
• MyVariant Identifiers: chr11:g.68216197G>A (hg19) ; chr11:g.68448729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448729G>A , CM000673.2:g.68448729G>A	GRCh38
NC_000011.9:g.68216197G>A , CM000673.1:g.68216197G>A	GRCh37
NC_000011.8:g.67972773G>A	NCBI36
NG_015835.1:g.141090G>A
NG_015835.2:g.141090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4587-80G>A MANE Select	ENSP00000294304.6:n.4587-80G>A
ENST00000294304.11:c.4587-80G>A	ENSP00000294304.6:n.4587-80G>A
ENST00000529481.1:n.178-80G>A
ENST00000529702.1:c.257-80G>A
ENST00000529993.5:c.*3193-80G>A	ENSP00000436652.1:n.*3193-80G>A
NM_001291902.1:c.2844-80G>A	NP_001278831.1:n.2844-80G>A
NM_002335.3:c.4587-80G>A	NP_002326.2:n.4587-80G>A
XM_005273994.2:c.4701-80G>A	XP_005274051.1:n.4701-80G>A
XM_011545029.1:c.4728-80G>A	XP_011543331.1:n.4728-80G>A
XM_011545030.1:c.4614-80G>A	XP_011543332.1:n.4614-80G>A
XM_011545031.1:c.4744-80G>A	XP_011543333.1:n.4744-80G>A
XR_949925.1:n.4974-80G>A
XR_949926.1:n.4990-80G>A
XM_017017735.1:c.2958-80G>A	XP_016873224.1:n.2958-80G>A
XM_017017736.1:c.2241-80G>A	XP_016873225.1:n.2241-80G>A
XR_949925.2:n.4974-80G>A
XR_949926.2:n.4990-80G>A
NM_002335.4:c.4587-80G>A MANE Select	NP_002326.2:n.4587-80G>A
NM_001291902.2:c.2844-80G>A	NP_001278831.1:n.2844-80G>A