Canonical Allele Identifier: CA6149536

Gene: LRP5

Linked Data

• dbSNP Id: rs780390972
• ExAC: 11:68177361 T / C
• gnomAD v2: 11-68177361-T-C
• MyVariant Identifiers: chr11:g.68177361T>C (hg19) ; chr11:g.68409893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68409893T>C , CM000673.2:g.68409893T>C	GRCh38
NC_000011.9:g.68177361T>C , CM000673.1:g.68177361T>C	GRCh37
NC_000011.8:g.67933937T>C	NCBI36
NG_015835.1:g.102254T>C
NG_015835.2:g.102254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2092-21T>C MANE Select	ENSP00000294304.6:n.2092-21T>C
ENST00000294304.11:c.2092-21T>C	ENSP00000294304.6:n.2092-21T>C
ENST00000529993.5:c.*698-21T>C	ENSP00000436652.1:n.*698-21T>C
NM_001291902.1:c.349-21T>C	NP_001278831.1:n.349-21T>C
NM_002335.3:c.2092-21T>C	NP_002326.2:n.2092-21T>C
XM_005273994.2:c.2092-21T>C	XP_005274051.1:n.2092-21T>C
XM_011545029.1:c.2119-21T>C	XP_011543331.1:n.2119-21T>C
XM_011545030.1:c.2119-21T>C	XP_011543332.1:n.2119-21T>C
XM_011545031.1:c.2119-21T>C	XP_011543333.1:n.2119-21T>C
XR_949925.1:n.2134-21T>C
XR_949926.1:n.2134-21T>C
XM_017017735.1:c.349-21T>C	XP_016873224.1:n.349-21T>C
XR_001747874.1:n.2134-21T>C
XR_949925.2:n.2134-21T>C
XR_949926.2:n.2134-21T>C
NM_002335.4:c.2092-21T>C MANE Select	NP_002326.2:n.2092-21T>C
NM_001291902.2:c.349-21T>C	NP_001278831.1:n.349-21T>C