Canonical Allele Identifier: CA1980594933

Gene: LRP5

Linked Data

• dbSNP Id: rs576118
• gnomAD v4: 11-68410240-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410240G>T , CM000673.2:g.68410240G>T	GRCh38
NC_000011.9:g.68177708G>T , CM000673.1:g.68177708G>T	GRCh37
NC_000011.8:g.67934284G>T	NCBI36
NG_015835.1:g.102601G>T
NG_015835.2:g.102601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+100G>T MANE Select	ENSP00000294304.6:n.2318+100G>T
ENST00000294304.11:c.2318+100G>T	ENSP00000294304.6:n.2318+100G>T
ENST00000528714.1:n.112+100G>T
ENST00000529993.5:c.*924+100G>T	ENSP00000436652.1:n.*924+100G>T
NM_001291902.1:c.575+100G>T	NP_001278831.1:n.575+100G>T
NM_002335.3:c.2318+100G>T	NP_002326.2:n.2318+100G>T
XM_005273994.2:c.2318+100G>T	XP_005274051.1:n.2318+100G>T
XM_011545029.1:c.2345+100G>T	XP_011543331.1:n.2345+100G>T
XM_011545030.1:c.2345+100G>T	XP_011543332.1:n.2345+100G>T
XM_011545031.1:c.2345+100G>T	XP_011543333.1:n.2345+100G>T
XR_949925.1:n.2360+100G>T
XR_949926.1:n.2360+100G>T
XM_017017735.1:c.575+100G>T	XP_016873224.1:n.575+100G>T
XR_001747874.1:n.2360+100G>T
XR_949925.2:n.2360+100G>T
XR_949926.2:n.2360+100G>T
NM_002335.4:c.2318+100G>T MANE Select	NP_002326.2:n.2318+100G>T
NM_001291902.2:c.575+100G>T	NP_001278831.1:n.575+100G>T