Canonical Allele Identifier: CA6148892

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1168683
• ClinVar RCV Id: RCV001519114 ; RCV002501818 ; RCV002276755 ; RCV003908857
• dbSNP Id: rs569517144
• ExAC: 11:68080282 G / C
• gnomAD v2: 11-68080282-G-C
• gnomAD v3: 11-68312814-G-C
• gnomAD v4: 11-68312814-G-C
• MyVariant Identifiers: chr11:g.68080282G>C (hg19) ; chr11:g.68312814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68312814G>C , CM000673.2:g.68312814G>C	GRCh38
NC_000011.9:g.68080282G>C , CM000673.1:g.68080282G>C	GRCh37
NC_000011.8:g.67836858G>C	NCBI36
NG_015835.1:g.5175G>C
NG_015835.2:g.5175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.91+9G>C MANE Select	ENSP00000294304.6:n.91+9G>C
ENST00000294304.11:c.91+9G>C	ENSP00000294304.6:n.91+9G>C
ENST00000529993.5:c.91+9G>C	ENSP00000436652.1:n.91+9G>C
NM_001291902.1:c.-1675+9G>C	NP_001278831.1:n.-1675+9G>C
NM_002335.3:c.91+9G>C	NP_002326.2:n.91+9G>C
XM_005273994.2:c.91+9G>C	XP_005274051.1:n.91+9G>C
XM_011545029.1:c.118+13816G>C	XP_011543331.1:n.118+13816G>C
XM_011545030.1:c.118+13816G>C	XP_011543332.1:n.118+13816G>C
XM_011545031.1:c.118+13816G>C	XP_011543333.1:n.118+13816G>C
XR_949925.1:n.133+13816G>C
XR_949926.1:n.133+13816G>C
XR_001747874.1:n.133+13816G>C
XR_949925.2:n.133+13816G>C
XR_949926.2:n.133+13816G>C
NM_002335.4:c.91+9G>C MANE Select	NP_002326.2:n.91+9G>C
NM_001291902.2:c.-1675+9G>C	NP_001278831.1:n.-1675+9G>C