Canonical Allele Identifier: CA1980651955
Gene: LRP5 HGNC NCBI

Linked Data

dbSNP Id: rs2098654002

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403732C>T , CM000673.2:g.68403732C>T GRCh38
NC_000011.9:g.68171200C>T , CM000673.1:g.68171200C>T GRCh37
NC_000011.8:g.67927776C>T NCBI36
NG_015835.1:g.96093C>T
NG_015835.2:g.96093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+33C>T MANE Select ENSP00000294304.6:n.1801+33C>T
ENST00000294304.11:c.1801+33C>T ENSP00000294304.6:n.1801+33C>T
ENST00000529993.5:c.*213+33C>T ENSP00000436652.1:n.*213+33C>T
NM_001291902.1:c.-137+33C>T NP_001278831.1:n.-137+33C>T
NM_002335.3:c.1801+33C>T NP_002326.2:n.1801+33C>T
XM_005273994.2:c.1801+33C>T XP_005274051.1:n.1801+33C>T
XM_011545029.1:c.1828+33C>T XP_011543331.1:n.1828+33C>T
XM_011545030.1:c.1828+33C>T XP_011543332.1:n.1828+33C>T
XM_011545031.1:c.1828+33C>T XP_011543333.1:n.1828+33C>T
XR_949925.1:n.1843+33C>T
XR_949926.1:n.1843+33C>T
XR_001747874.1:n.1843+33C>T
XR_949925.2:n.1843+33C>T
XR_949926.2:n.1843+33C>T
NM_002335.4:c.1801+33C>T MANE Select NP_002326.2:n.1801+33C>T
NM_001291902.2:c.-137+33C>T NP_001278831.1:n.-137+33C>T