Canonical Allele Identifier: CA224268297

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1046602
• ClinVar RCV Id: RCV001351180 ; RCV002486451
• dbSNP Id: rs1045994595
• gnomAD v2: 11-68174100-T-C
• gnomAD v3: 11-68406632-T-C
• gnomAD v4: 11-68406632-T-C
• MyVariant Identifiers: chr11:g.68174100T>C (hg19) ; chr11:g.68406632T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406632T>C , CM000673.2:g.68406632T>C	GRCh38
NC_000011.9:g.68174100T>C , CM000673.1:g.68174100T>C	GRCh37
NC_000011.8:g.67930676T>C	NCBI36
NG_015835.1:g.98993T>C
NG_015835.2:g.98993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1910T>C MANE Select	ENSP00000294304.6:p.Met637Thr
ENST00000294304.11:c.1910T>C	ENSP00000294304.6:p.Met637Thr
ENST00000529993.5:c.*516T>C	ENSP00000436652.1:n.*516T>C
NM_001291902.1:c.167T>C	NP_001278831.1:p.Met56Thr
NM_002335.3:c.1910T>C	NP_002326.2:p.Met637Thr
XM_005273994.2:c.1910T>C	XP_005274051.1:p.Met637Thr
XM_011545029.1:c.1937T>C	XP_011543331.1:p.Met646Thr
XM_011545030.1:c.1937T>C	XP_011543332.1:p.Met646Thr
XM_011545031.1:c.1937T>C	XP_011543333.1:p.Met646Thr
XR_949925.1:n.1952T>C
XR_949926.1:n.1952T>C
XM_017017735.1:c.167T>C	XP_016873224.1:p.Met56Thr
XR_001747874.1:n.1952T>C
XR_949925.2:n.1952T>C
XR_949926.2:n.1952T>C
NM_002335.4:c.1910T>C MANE Select	NP_002326.2:p.Met637Thr
NM_001291902.2:c.167T>C	NP_001278831.1:p.Met56Thr