Canonical Allele Identifier: CA6149399

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403545T>C , CM000673.2:g.68403545T>C	GRCh38
NC_000011.9:g.68171013T>C , CM000673.1:g.68171013T>C	GRCh37
NC_000011.8:g.67927589T>C	NCBI36
NG_015835.1:g.95906T>C
NG_015835.2:g.95906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1647T>C MANE Select	ENSP00000294304.6:p.Phe549=
ENST00000294304.11:c.1647T>C	ENSP00000294304.6:p.Phe549=
ENST00000529993.5:c.*59T>C	ENSP00000436652.1:n.*59T>C
NM_001291902.1:c.-291T>C	NP_001278831.1:n.-291T>C
NM_002335.3:c.1647T>C	NP_002326.2:p.Phe549=
XM_005273994.2:c.1647T>C	XP_005274051.1:p.Phe549=
XM_011545029.1:c.1674T>C	XP_011543331.1:p.Phe558=
XM_011545030.1:c.1674T>C	XP_011543332.1:p.Phe558=
XM_011545031.1:c.1674T>C	XP_011543333.1:p.Phe558=
XR_949925.1:n.1689T>C
XR_949926.1:n.1689T>C
XR_001747874.1:n.1689T>C
XR_949925.2:n.1689T>C
XR_949926.2:n.1689T>C
NM_002335.4:c.1647T>C MANE Select	NP_002326.2:p.Phe549=
NM_001291902.2:c.-291T>C	NP_001278831.1:n.-291T>C