Canonical Allele Identifier: CA381610277

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68115428G>A (hg19) ; chr11:g.68347960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68347960G>A , CM000673.2:g.68347960G>A	GRCh38
NC_000011.9:g.68115428G>A , CM000673.1:g.68115428G>A	GRCh37
NC_000011.8:g.67872004G>A	NCBI36
NG_015835.1:g.40321G>A
NG_015835.2:g.40321G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.205G>A MANE Select	ENSP00000294304.6:p.Asp69Asn
ENST00000294304.11:c.205G>A	ENSP00000294304.6:p.Asp69Asn
ENST00000529993.5:c.205G>A	ENSP00000436652.1:p.Asp69Asn
NM_001291902.1:c.-1561G>A	NP_001278831.1:n.-1561G>A
NM_002335.3:c.205G>A	NP_002326.2:p.Asp69Asn
XM_005273994.2:c.205G>A	XP_005274051.1:p.Asp69Asn
XM_011545029.1:c.232G>A	XP_011543331.1:p.Asp78Asn
XM_011545030.1:c.232G>A	XP_011543332.1:p.Asp78Asn
XM_011545031.1:c.232G>A	XP_011543333.1:p.Asp78Asn
XR_949925.1:n.247G>A
XR_949926.1:n.247G>A
XR_001747874.1:n.247G>A
XR_949925.2:n.247G>A
XR_949926.2:n.247G>A
NM_002335.4:c.205G>A MANE Select	NP_002326.2:p.Asp69Asn
NM_001291902.2:c.-1561G>A	NP_001278831.1:n.-1561G>A