Canonical Allele Identifier: CA381616779

Gene: LRP5

Linked Data

• dbSNP Id: rs747832451
• MyVariant Identifiers: chr11:g.68213911A>C (hg19) ; chr11:g.68446443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446443A>C , CM000673.2:g.68446443A>C	GRCh38
NC_000011.9:g.68213911A>C , CM000673.1:g.68213911A>C	GRCh37
NC_000011.8:g.67970487A>C	NCBI36
NG_015835.1:g.138804A>C
NG_015835.2:g.138804A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4496A>C MANE Select	ENSP00000294304.6:p.Asn1499Thr
ENST00000294304.11:c.4496A>C	ENSP00000294304.6:p.Asn1499Thr
ENST00000529702.1:c.166A>C
ENST00000529993.5:c.*3102A>C	ENSP00000436652.1:n.*3102A>C
NM_001291902.1:c.2753A>C	NP_001278831.1:p.Asn918Thr
NM_002335.3:c.4496A>C	NP_002326.2:p.Asn1499Thr
XM_005273994.2:c.4610A>C	XP_005274051.1:p.Asn1537Thr
XM_011545029.1:c.4637A>C	XP_011543331.1:p.Asn1546Thr
XM_011545030.1:c.4523A>C	XP_011543332.1:p.Asn1508Thr
XM_011545031.1:c.4653A>C	XP_011543333.1:p.Glu1551Asp
XR_949925.1:n.4652A>C
XR_949926.1:n.4668A>C
XM_017017735.1:c.2867A>C	XP_016873224.1:p.Asn956Thr
XM_017017736.1:c.2150A>C	XP_016873225.1:p.Asn717Thr
XR_949925.2:n.4652A>C
XR_949926.2:n.4668A>C
NM_002335.4:c.4496A>C MANE Select	NP_002326.2:p.Asn1499Thr
NM_001291902.2:c.2753A>C	NP_001278831.1:p.Asn918Thr