Canonical Allele Identifier: CA224270919

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1657147
• ClinVar RCV Id: RCV002183512
• dbSNP Id: rs1053398255
• gnomAD v3: 11-68347863-A-G
• gnomAD v4: 11-68347863-A-G
• MyVariant Identifiers: chr11:g.68115331A>G (hg19) ; chr11:g.68347863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68347863A>G , CM000673.2:g.68347863A>G	GRCh38
NC_000011.9:g.68115331A>G , CM000673.1:g.68115331A>G	GRCh37
NC_000011.8:g.67871907A>G	NCBI36
NG_015835.1:g.40224A>G
NG_015835.2:g.40224A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.108A>G MANE Select	ENSP00000294304.6:p.Leu36=
ENST00000294304.11:c.108A>G	ENSP00000294304.6:p.Leu36=
ENST00000529993.5:c.108A>G	ENSP00000436652.1:p.Leu36=
NM_001291902.1:c.-1658A>G	NP_001278831.1:n.-1658A>G
NM_002335.3:c.108A>G	NP_002326.2:p.Leu36=
XM_005273994.2:c.108A>G	XP_005274051.1:p.Leu36=
XM_011545029.1:c.135A>G	XP_011543331.1:p.Leu45=
XM_011545030.1:c.135A>G	XP_011543332.1:p.Leu45=
XM_011545031.1:c.135A>G	XP_011543333.1:p.Leu45=
XR_949925.1:n.150A>G
XR_949926.1:n.150A>G
XR_001747874.1:n.150A>G
XR_949925.2:n.150A>G
XR_949926.2:n.150A>G
NM_002335.4:c.108A>G MANE Select	NP_002326.2:p.Leu36=
NM_001291902.2:c.-1658A>G	NP_001278831.1:n.-1658A>G