Canonical Allele Identifier: CA381616770

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68213908T>C (hg19) ; chr11:g.68446440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446440T>C , CM000673.2:g.68446440T>C	GRCh38
NC_000011.9:g.68213908T>C , CM000673.1:g.68213908T>C	GRCh37
NC_000011.8:g.67970484T>C	NCBI36
NG_015835.1:g.138801T>C
NG_015835.2:g.138801T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4493T>C MANE Select	ENSP00000294304.6:p.Leu1498Pro
ENST00000294304.11:c.4493T>C	ENSP00000294304.6:p.Leu1498Pro
ENST00000529702.1:c.163T>C
ENST00000529993.5:c.*3099T>C	ENSP00000436652.1:n.*3099T>C
NM_001291902.1:c.2750T>C	NP_001278831.1:p.Leu917Pro
NM_002335.3:c.4493T>C	NP_002326.2:p.Leu1498Pro
XM_005273994.2:c.4607T>C	XP_005274051.1:p.Leu1536Pro
XM_011545029.1:c.4634T>C	XP_011543331.1:p.Leu1545Pro
XM_011545030.1:c.4520T>C	XP_011543332.1:p.Leu1507Pro
XM_011545031.1:c.4650T>C	XP_011543333.1:p.Pro1550=
XR_949925.1:n.4649T>C
XR_949926.1:n.4665T>C
XM_017017735.1:c.2864T>C	XP_016873224.1:p.Leu955Pro
XM_017017736.1:c.2147T>C	XP_016873225.1:p.Leu716Pro
XR_949925.2:n.4649T>C
XR_949926.2:n.4665T>C
NM_002335.4:c.4493T>C MANE Select	NP_002326.2:p.Leu1498Pro
NM_001291902.2:c.2750T>C	NP_001278831.1:p.Leu917Pro