Canonical Allele Identifier: CA381613062

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68389948C>T , CM000673.2:g.68389948C>T	GRCh38
NC_000011.9:g.68157416C>T , CM000673.1:g.68157416C>T	GRCh37
NC_000011.8:g.67913992C>T	NCBI36
NG_015835.1:g.82309C>T
NG_015835.2:g.82309C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.1480C>T MANE Select	NP_002326.2:p.Arg494Trp
ENST00000294304.12:c.1480C>T MANE Select	ENSP00000294304.6:p.Arg494Trp
NM_001291902.1:c.-354+3236C>T	NP_001278831.1:n.-354+3236C>T
NM_001291902.2:c.-354+3236C>T	NP_001278831.1:n.-354+3236C>T
NM_002335.3:c.1480C>T	NP_002326.2:p.Arg494Trp
ENST00000294304.11:c.1480C>T	ENSP00000294304.6:p.Arg494Trp
ENST00000529993.5:c.1412+3236C>T	ENSP00000436652.1:n.1412+3236C>T
XM_005273994.2:c.1480C>T	XP_005274051.1:p.Arg494Trp
XM_011545029.1:c.1507C>T	XP_011543331.1:p.Arg503Trp
XM_011545030.1:c.1507C>T	XP_011543332.1:p.Arg503Trp
XM_011545031.1:c.1507C>T	XP_011543333.1:p.Arg503Trp
XR_001747874.1:n.1522C>T
XR_949925.1:n.1522C>T
XR_949925.2:n.1522C>T
XR_949926.1:n.1522C>T
XR_949926.2:n.1522C>T