Canonical Allele Identifier: CA381616755

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68213904A>C (hg19) ; chr11:g.68446436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446436A>C , CM000673.2:g.68446436A>C	GRCh38
NC_000011.9:g.68213904A>C , CM000673.1:g.68213904A>C	GRCh37
NC_000011.8:g.67970480A>C	NCBI36
NG_015835.1:g.138797A>C
NG_015835.2:g.138797A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4489A>C MANE Select	ENSP00000294304.6:p.Ile1497Leu
ENST00000294304.11:c.4489A>C	ENSP00000294304.6:p.Ile1497Leu
ENST00000529702.1:c.159A>C
ENST00000529993.5:c.*3095A>C	ENSP00000436652.1:n.*3095A>C
NM_001291902.1:c.2746A>C	NP_001278831.1:p.Ile916Leu
NM_002335.3:c.4489A>C	NP_002326.2:p.Ile1497Leu
XM_005273994.2:c.4603A>C	XP_005274051.1:p.Ile1535Leu
XM_011545029.1:c.4630A>C	XP_011543331.1:p.Ile1544Leu
XM_011545030.1:c.4516A>C	XP_011543332.1:p.Ile1506Leu
XM_011545031.1:c.4646A>C	XP_011543333.1:p.Asp1549Ala
XR_949925.1:n.4645A>C
XR_949926.1:n.4661A>C
XM_017017735.1:c.2860A>C	XP_016873224.1:p.Ile954Leu
XM_017017736.1:c.2143A>C	XP_016873225.1:p.Ile715Leu
XR_949925.2:n.4645A>C
XR_949926.2:n.4661A>C
NM_002335.4:c.4489A>C MANE Select	NP_002326.2:p.Ile1497Leu
NM_001291902.2:c.2746A>C	NP_001278831.1:p.Ile916Leu