Canonical Allele Identifier: CA6149414

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1657943
• ClinVar RCV Id: RCV002175788
• dbSNP Id: rs767464846
• ExAC: 11:68171079 G / A
• gnomAD v2: 11-68171079-G-A
• gnomAD v3: 11-68403611-G-A
• gnomAD v4: 11-68403611-G-A
• MyVariant Identifiers: chr11:g.68171079G>A (hg19) ; chr11:g.68403611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403611G>A , CM000673.2:g.68403611G>A	GRCh38
NC_000011.9:g.68171079G>A , CM000673.1:g.68171079G>A	GRCh37
NC_000011.8:g.67927655G>A	NCBI36
NG_015835.1:g.95972G>A
NG_015835.2:g.95972G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.1713G>A MANE Select	ENSP00000294304.6:p.Val571=
ENST00000294304.11:c.1713G>A	ENSP00000294304.6:p.Val571=
ENST00000529993.5:c.*125G>A	ENSP00000436652.1:n.*125G>A
NM_001291902.1:c.-225G>A	NP_001278831.1:n.-225G>A
NM_002335.3:c.1713G>A	NP_002326.2:p.Val571=
XM_005273994.2:c.1713G>A	XP_005274051.1:p.Val571=
XM_011545029.1:c.1740G>A	XP_011543331.1:p.Val580=
XM_011545030.1:c.1740G>A	XP_011543332.1:p.Val580=
XM_011545031.1:c.1740G>A	XP_011543333.1:p.Val580=
XR_949925.1:n.1755G>A
XR_949926.1:n.1755G>A
XR_001747874.1:n.1755G>A
XR_949925.2:n.1755G>A
XR_949926.2:n.1755G>A
NM_002335.4:c.1713G>A MANE Select	NP_002326.2:p.Val571=
NM_001291902.2:c.-225G>A	NP_001278831.1:n.-225G>A