Canonical Allele Identifier: CA381613670

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68201118T>A (hg19) ; chr11:g.68433650T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433650T>A , CM000673.2:g.68433650T>A	GRCh38
NC_000011.9:g.68201118T>A , CM000673.1:g.68201118T>A	GRCh37
NC_000011.8:g.67957694T>A	NCBI36
NG_015835.1:g.126011T>A
NG_015835.2:g.126011T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3812T>A MANE Select	ENSP00000294304.6:p.Ile1271Asn
ENST00000294304.11:c.3812T>A	ENSP00000294304.6:p.Ile1271Asn
ENST00000529993.5:c.*2418T>A	ENSP00000436652.1:n.*2418T>A
NM_001291902.1:c.2069T>A	NP_001278831.1:p.Ile690Asn
NM_002335.3:c.3812T>A	NP_002326.2:p.Ile1271Asn
XM_005273994.2:c.3812T>A	XP_005274051.1:p.Ile1271Asn
XM_011545029.1:c.3839T>A	XP_011543331.1:p.Ile1280Asn
XM_011545030.1:c.3839T>A	XP_011543332.1:p.Ile1280Asn
XM_011545031.1:c.3839T>A	XP_011543333.1:p.Ile1280Asn
XR_949925.1:n.3854T>A
XR_949926.1:n.3854T>A
XM_017017735.1:c.2069T>A	XP_016873224.1:p.Ile690Asn
XM_017017736.1:c.1352T>A	XP_016873225.1:p.Ile451Asn
XR_949925.2:n.3854T>A
XR_949926.2:n.3854T>A
NM_002335.4:c.3812T>A MANE Select	NP_002326.2:p.Ile1271Asn
NM_001291902.2:c.2069T>A	NP_001278831.1:p.Ile690Asn