Canonical Allele Identifier: CA381617881

Gene: LRP5

Linked Data

• dbSNP Id: rs1323032139
• gnomAD v4: 11-68448834-C-T
• MyVariant Identifiers: chr11:g.68216302C>T (hg19) ; chr11:g.68448834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448834C>T , CM000673.2:g.68448834C>T	GRCh38
NC_000011.9:g.68216302C>T , CM000673.1:g.68216302C>T	GRCh37
NC_000011.8:g.67972878C>T	NCBI36
NG_015835.1:g.141195C>T
NG_015835.2:g.141195C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4612C>T MANE Select	ENSP00000294304.6:p.Pro1538Ser
ENST00000294304.11:c.4612C>T	ENSP00000294304.6:p.Pro1538Ser
ENST00000529481.1:n.203C>T
ENST00000529702.1:c.282C>T
ENST00000529993.5:c.*3218C>T	ENSP00000436652.1:n.*3218C>T
NM_001291902.1:c.2869C>T	NP_001278831.1:p.Pro957Ser
NM_002335.3:c.4612C>T	NP_002326.2:p.Pro1538Ser
XM_005273994.2:c.4726C>T	XP_005274051.1:p.Pro1576Ser
XM_011545029.1:c.4753C>T	XP_011543331.1:p.Pro1585Ser
XM_011545030.1:c.4639C>T	XP_011543332.1:p.Pro1547Ser
XM_011545031.1:c.4769C>T	XP_011543333.1:p.Ala1590Val
XR_949925.1:n.4999C>T
XR_949926.1:n.5015C>T
XM_017017735.1:c.2983C>T	XP_016873224.1:p.Pro995Ser
XM_017017736.1:c.2266C>T	XP_016873225.1:p.Pro756Ser
XR_949925.2:n.4999C>T
XR_949926.2:n.5015C>T
NM_002335.4:c.4612C>T MANE Select	NP_002326.2:p.Pro1538Ser
NM_001291902.2:c.2869C>T	NP_001278831.1:p.Pro957Ser