Canonical Allele Identifier: CA381617869

Gene: LRP5

Linked Data

• gnomAD v4: 11-68448831-G-T
• MyVariant Identifiers: chr11:g.68216299G>T (hg19) ; chr11:g.68448831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448831G>T , CM000673.2:g.68448831G>T	GRCh38
NC_000011.9:g.68216299G>T , CM000673.1:g.68216299G>T	GRCh37
NC_000011.8:g.67972875G>T	NCBI36
NG_015835.1:g.141192G>T
NG_015835.2:g.141192G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4609G>T MANE Select	ENSP00000294304.6:p.Ala1537Ser
ENST00000294304.11:c.4609G>T	ENSP00000294304.6:p.Ala1537Ser
ENST00000529481.1:n.200G>T
ENST00000529702.1:c.279G>T
ENST00000529993.5:c.*3215G>T	ENSP00000436652.1:n.*3215G>T
NM_001291902.1:c.2866G>T	NP_001278831.1:p.Ala956Ser
NM_002335.3:c.4609G>T	NP_002326.2:p.Ala1537Ser
XM_005273994.2:c.4723G>T	XP_005274051.1:p.Ala1575Ser
XM_011545029.1:c.4750G>T	XP_011543331.1:p.Ala1584Ser
XM_011545030.1:c.4636G>T	XP_011543332.1:p.Ala1546Ser
XM_011545031.1:c.4766G>T	XP_011543333.1:p.Gly1589Val
XR_949925.1:n.4996G>T
XR_949926.1:n.5012G>T
XM_017017735.1:c.2980G>T	XP_016873224.1:p.Ala994Ser
XM_017017736.1:c.2263G>T	XP_016873225.1:p.Ala755Ser
XR_949925.2:n.4996G>T
XR_949926.2:n.5012G>T
NM_002335.4:c.4609G>T MANE Select	NP_002326.2:p.Ala1537Ser
NM_001291902.2:c.2866G>T	NP_001278831.1:p.Ala956Ser