Canonical Allele Identifier: CA381613843

Gene: LRP5

Linked Data

• dbSNP Id: rs1458343993
• gnomAD v3: 11-68433728-T-C
• gnomAD v4: 11-68433728-T-C
• MyVariant Identifiers: chr11:g.68201196T>C (hg19) ; chr11:g.68433728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433728T>C , CM000673.2:g.68433728T>C	GRCh38
NC_000011.9:g.68201196T>C , CM000673.1:g.68201196T>C	GRCh37
NC_000011.8:g.67957772T>C	NCBI36
NG_015835.1:g.126089T>C
NG_015835.2:g.126089T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3890T>C MANE Select	ENSP00000294304.6:p.Val1297Ala
ENST00000294304.11:c.3890T>C	ENSP00000294304.6:p.Val1297Ala
ENST00000529993.5:c.*2496T>C	ENSP00000436652.1:n.*2496T>C
NM_001291902.1:c.2147T>C	NP_001278831.1:p.Val716Ala
NM_002335.3:c.3890T>C	NP_002326.2:p.Val1297Ala
XM_005273994.2:c.3890T>C	XP_005274051.1:p.Val1297Ala
XM_011545029.1:c.3917T>C	XP_011543331.1:p.Val1306Ala
XM_011545030.1:c.3917T>C	XP_011543332.1:p.Val1306Ala
XM_011545031.1:c.3917T>C	XP_011543333.1:p.Val1306Ala
XR_949925.1:n.3932T>C
XR_949926.1:n.3932T>C
XM_017017735.1:c.2147T>C	XP_016873224.1:p.Val716Ala
XM_017017736.1:c.1430T>C	XP_016873225.1:p.Val477Ala
XR_949925.2:n.3932T>C
XR_949926.2:n.3932T>C
NM_002335.4:c.3890T>C MANE Select	NP_002326.2:p.Val1297Ala
NM_001291902.2:c.2147T>C	NP_001278831.1:p.Val716Ala