Canonical Allele Identifier: CA2614716833
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68446366G>T , CM000673.2:g.68446366G>T GRCh38
NC_000011.9:g.68213834G>T , CM000673.1:g.68213834G>T GRCh37
NC_000011.8:g.67970410G>T NCBI36
NG_015835.1:g.138727G>T
NG_015835.2:g.138727G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.4489-70G>T MANE Select ENSP00000294304.6:n.4489-70G>T
ENST00000294304.11:c.4489-70G>T ENSP00000294304.6:n.4489-70G>T
ENST00000529702.1:c.159-70G>T
ENST00000529993.5:c.*3095-70G>T ENSP00000436652.1:n.*3095-70G>T
NM_001291902.1:c.2746-70G>T NP_001278831.1:n.2746-70G>T
NM_002335.3:c.4489-70G>T NP_002326.2:n.4489-70G>T
XM_005273994.2:c.4603-70G>T XP_005274051.1:n.4603-70G>T
XM_011545029.1:c.4630-70G>T XP_011543331.1:n.4630-70G>T
XM_011545030.1:c.4516-70G>T XP_011543332.1:n.4516-70G>T
XM_011545031.1:c.4646-70G>T XP_011543333.1:n.4646-70G>T
XR_949925.1:n.4645-70G>T
XR_949926.1:n.4661-70G>T
XM_017017735.1:c.2860-70G>T XP_016873224.1:n.2860-70G>T
XM_017017736.1:c.2143-70G>T XP_016873225.1:n.2143-70G>T
XR_949925.2:n.4645-70G>T
XR_949926.2:n.4661-70G>T
NM_002335.4:c.4489-70G>T MANE Select NP_002326.2:n.4489-70G>T
NM_001291902.2:c.2746-70G>T NP_001278831.1:n.2746-70G>T