Canonical Allele Identifier: CA381616727

Gene: LRP5

Linked Data

• gnomAD v4: 11-68410133-A-C
• MyVariant Identifiers: chr11:g.68177601A>C (hg19) ; chr11:g.68410133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410133A>C , CM000673.2:g.68410133A>C	GRCh38
NC_000011.9:g.68177601A>C , CM000673.1:g.68177601A>C	GRCh37
NC_000011.8:g.67934177A>C	NCBI36
NG_015835.1:g.102494A>C
NG_015835.2:g.102494A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2311A>C MANE Select	ENSP00000294304.6:p.Thr771Pro
ENST00000294304.11:c.2311A>C	ENSP00000294304.6:p.Thr771Pro
ENST00000528714.1:n.105A>C
ENST00000529993.5:c.*917A>C	ENSP00000436652.1:n.*917A>C
NM_001291902.1:c.568A>C	NP_001278831.1:p.Thr190Pro
NM_002335.3:c.2311A>C	NP_002326.2:p.Thr771Pro
XM_005273994.2:c.2311A>C	XP_005274051.1:p.Thr771Pro
XM_011545029.1:c.2338A>C	XP_011543331.1:p.Thr780Pro
XM_011545030.1:c.2338A>C	XP_011543332.1:p.Thr780Pro
XM_011545031.1:c.2338A>C	XP_011543333.1:p.Thr780Pro
XR_949925.1:n.2353A>C
XR_949926.1:n.2353A>C
XM_017017735.1:c.568A>C	XP_016873224.1:p.Thr190Pro
XR_001747874.1:n.2353A>C
XR_949925.2:n.2353A>C
XR_949926.2:n.2353A>C
NM_002335.4:c.2311A>C MANE Select	NP_002326.2:p.Thr771Pro
NM_001291902.2:c.568A>C	NP_001278831.1:p.Thr190Pro