Canonical Allele Identifier: CA475462421
Gene: LRP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68171076G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403608G>T , CM000673.2:g.68403608G>T GRCh38
NC_000011.9:g.68171076G>T , CM000673.1:g.68171076G>T GRCh37
NC_000011.8:g.67927652G>T NCBI36
NG_015835.1:g.95969G>T
NG_015835.2:g.95969G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.1710G>T MANE Select ENSP00000294304.6:p.Arg570=
ENST00000294304.11:c.1710G>T ENSP00000294304.6:p.Arg570=
ENST00000529993.5:c.*122G>T ENSP00000436652.1:n.*122G>T
NM_001291902.1:c.-228G>T NP_001278831.1:n.-228G>T
NM_002335.3:c.1710G>T NP_002326.2:p.Arg570=
XM_005273994.2:c.1710G>T XP_005274051.1:p.Arg570=
XM_011545029.1:c.1737G>T XP_011543331.1:p.Arg579=
XM_011545030.1:c.1737G>T XP_011543332.1:p.Arg579=
XM_011545031.1:c.1737G>T XP_011543333.1:p.Arg579=
XR_949925.1:n.1752G>T
XR_949926.1:n.1752G>T
XR_001747874.1:n.1752G>T
XR_949925.2:n.1752G>T
XR_949926.2:n.1752G>T
NM_002335.4:c.1710G>T MANE Select NP_002326.2:p.Arg570=
NM_001291902.2:c.-228G>T NP_001278831.1:n.-228G>T