Canonical Allele Identifier: CA381616758

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68213905T>A (hg19) ; chr11:g.68446437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446437T>A , CM000673.2:g.68446437T>A	GRCh38
NC_000011.9:g.68213905T>A , CM000673.1:g.68213905T>A	GRCh37
NC_000011.8:g.67970481T>A	NCBI36
NG_015835.1:g.138798T>A
NG_015835.2:g.138798T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4490T>A MANE Select	ENSP00000294304.6:p.Ile1497Asn
ENST00000294304.11:c.4490T>A	ENSP00000294304.6:p.Ile1497Asn
ENST00000529702.1:c.160T>A
ENST00000529993.5:c.*3096T>A	ENSP00000436652.1:n.*3096T>A
NM_001291902.1:c.2747T>A	NP_001278831.1:p.Ile916Asn
NM_002335.3:c.4490T>A	NP_002326.2:p.Ile1497Asn
XM_005273994.2:c.4604T>A	XP_005274051.1:p.Ile1535Asn
XM_011545029.1:c.4631T>A	XP_011543331.1:p.Ile1544Asn
XM_011545030.1:c.4517T>A	XP_011543332.1:p.Ile1506Asn
XM_011545031.1:c.4647T>A	XP_011543333.1:p.Asp1549Glu
XR_949925.1:n.4646T>A
XR_949926.1:n.4662T>A
XM_017017735.1:c.2861T>A	XP_016873224.1:p.Ile954Asn
XM_017017736.1:c.2144T>A	XP_016873225.1:p.Ile715Asn
XR_949925.2:n.4646T>A
XR_949926.2:n.4662T>A
NM_002335.4:c.4490T>A MANE Select	NP_002326.2:p.Ile1497Asn
NM_001291902.2:c.2747T>A	NP_001278831.1:p.Ile916Asn