Canonical Allele Identifier: CA6149479

Gene: LRP5

Linked Data

• dbSNP Id: rs748460105
• ExAC: 11:68174061 G / T
• gnomAD v2: 11-68174061-G-T
• gnomAD v3: 11-68406593-G-T
• gnomAD v4: 11-68406593-G-T
• MyVariant Identifiers: chr11:g.68174061G>T (hg19) ; chr11:g.68406593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406593G>T , CM000673.2:g.68406593G>T	GRCh38
NC_000011.9:g.68174061G>T , CM000673.1:g.68174061G>T	GRCh37
NC_000011.8:g.67930637G>T	NCBI36
NG_015835.1:g.98954G>T
NG_015835.2:g.98954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1871G>T MANE Select	ENSP00000294304.6:p.Arg624Leu
ENST00000294304.11:c.1871G>T	ENSP00000294304.6:p.Arg624Leu
ENST00000529993.5:c.*477G>T	ENSP00000436652.1:n.*477G>T
NM_001291902.1:c.128G>T	NP_001278831.1:p.Arg43Leu
NM_002335.3:c.1871G>T	NP_002326.2:p.Arg624Leu
XM_005273994.2:c.1871G>T	XP_005274051.1:p.Arg624Leu
XM_011545029.1:c.1898G>T	XP_011543331.1:p.Arg633Leu
XM_011545030.1:c.1898G>T	XP_011543332.1:p.Arg633Leu
XM_011545031.1:c.1898G>T	XP_011543333.1:p.Arg633Leu
XR_949925.1:n.1913G>T
XR_949926.1:n.1913G>T
XM_017017735.1:c.128G>T	XP_016873224.1:p.Arg43Leu
XR_001747874.1:n.1913G>T
XR_949925.2:n.1913G>T
XR_949926.2:n.1913G>T
NM_002335.4:c.1871G>T MANE Select	NP_002326.2:p.Arg624Leu
NM_001291902.2:c.128G>T	NP_001278831.1:p.Arg43Leu