Canonical Allele Identifier: CA381610787

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68348197C>T , CM000673.2:g.68348197C>T	GRCh38
NC_000011.9:g.68115665C>T , CM000673.1:g.68115665C>T	GRCh37
NC_000011.8:g.67872241C>T	NCBI36
NG_015835.1:g.40558C>T
NG_015835.2:g.40558C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.442C>T MANE Select	NP_002326.2:p.Gln148Ter
ENST00000294304.12:c.442C>T MANE Select	ENSP00000294304.6:p.Gln148Ter
NM_001291902.1:c.-1324C>T	NP_001278831.1:n.-1324C>T
NM_001291902.2:c.-1324C>T	NP_001278831.1:n.-1324C>T
NM_002335.3:c.442C>T	NP_002326.2:p.Gln148Ter
ENST00000294304.11:c.442C>T	ENSP00000294304.6:p.Gln148Ter
ENST00000529993.5:c.442C>T	ENSP00000436652.1:p.Gln148Ter
XM_005273994.2:c.442C>T	XP_005274051.1:p.Gln148Ter
XM_011545029.1:c.469C>T	XP_011543331.1:p.Gln157Ter
XM_011545030.1:c.469C>T	XP_011543332.1:p.Gln157Ter
XM_011545031.1:c.469C>T	XP_011543333.1:p.Gln157Ter
XR_001747874.1:n.484C>T
XR_949925.1:n.484C>T
XR_949925.2:n.484C>T
XR_949926.1:n.484C>T
XR_949926.2:n.484C>T