Canonical Allele Identifier: CA475460743
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68201110A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68433642A>T , CM000673.2:g.68433642A>T GRCh38
NC_000011.9:g.68201110A>T , CM000673.1:g.68201110A>T GRCh37
NC_000011.8:g.67957686A>T NCBI36
NG_015835.1:g.126003A>T
NG_015835.2:g.126003A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.3804A>T MANE Select ENSP00000294304.6:p.Thr1268=
ENST00000294304.11:c.3804A>T ENSP00000294304.6:p.Thr1268=
ENST00000529993.5:c.*2410A>T ENSP00000436652.1:n.*2410A>T
NM_001291902.1:c.2061A>T NP_001278831.1:p.Thr687=
NM_002335.3:c.3804A>T NP_002326.2:p.Thr1268=
XM_005273994.2:c.3804A>T XP_005274051.1:p.Thr1268=
XM_011545029.1:c.3831A>T XP_011543331.1:p.Thr1277=
XM_011545030.1:c.3831A>T XP_011543332.1:p.Thr1277=
XM_011545031.1:c.3831A>T XP_011543333.1:p.Thr1277=
XR_949925.1:n.3846A>T
XR_949926.1:n.3846A>T
XM_017017735.1:c.2061A>T XP_016873224.1:p.Thr687=
XM_017017736.1:c.1344A>T XP_016873225.1:p.Thr448=
XR_949925.2:n.3846A>T
XR_949926.2:n.3846A>T
NM_002335.4:c.3804A>T MANE Select NP_002326.2:p.Thr1268=
NM_001291902.2:c.2061A>T NP_001278831.1:p.Thr687=