Canonical Allele Identifier: CA6150130

Gene: LRP5

Linked Data

• dbSNP Id: rs770724104
• ExAC: 11:68201153 T / C
• gnomAD v2: 11-68201153-T-C
• gnomAD v4: 11-68433685-T-C
• MyVariant Identifiers: chr11:g.68201153T>C (hg19) ; chr11:g.68433685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433685T>C , CM000673.2:g.68433685T>C	GRCh38
NC_000011.9:g.68201153T>C , CM000673.1:g.68201153T>C	GRCh37
NC_000011.8:g.67957729T>C	NCBI36
NG_015835.1:g.126046T>C
NG_015835.2:g.126046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3847T>C MANE Select	ENSP00000294304.6:p.Phe1283Leu
ENST00000294304.11:c.3847T>C	ENSP00000294304.6:p.Phe1283Leu
ENST00000529993.5:c.*2453T>C	ENSP00000436652.1:n.*2453T>C
NM_001291902.1:c.2104T>C	NP_001278831.1:p.Phe702Leu
NM_002335.3:c.3847T>C	NP_002326.2:p.Phe1283Leu
XM_005273994.2:c.3847T>C	XP_005274051.1:p.Phe1283Leu
XM_011545029.1:c.3874T>C	XP_011543331.1:p.Phe1292Leu
XM_011545030.1:c.3874T>C	XP_011543332.1:p.Phe1292Leu
XM_011545031.1:c.3874T>C	XP_011543333.1:p.Phe1292Leu
XR_949925.1:n.3889T>C
XR_949926.1:n.3889T>C
XM_017017735.1:c.2104T>C	XP_016873224.1:p.Phe702Leu
XM_017017736.1:c.1387T>C	XP_016873225.1:p.Phe463Leu
XR_949925.2:n.3889T>C
XR_949926.2:n.3889T>C
NM_002335.4:c.3847T>C MANE Select	NP_002326.2:p.Phe1283Leu
NM_001291902.2:c.2104T>C	NP_001278831.1:p.Phe702Leu