Canonical Allele Identifier: CA381613858

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1972394
• ClinVar RCV Id: RCV002746162
• gnomAD v4: 11-68433734-C-T
• MyVariant Identifiers: chr11:g.68201202C>T (hg19) ; chr11:g.68433734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433734C>T , CM000673.2:g.68433734C>T	GRCh38
NC_000011.9:g.68201202C>T , CM000673.1:g.68201202C>T	GRCh37
NC_000011.8:g.67957778C>T	NCBI36
NG_015835.1:g.126095C>T
NG_015835.2:g.126095C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3896C>T MANE Select	ENSP00000294304.6:p.Ser1299Phe
ENST00000294304.11:c.3896C>T	ENSP00000294304.6:p.Ser1299Phe
ENST00000529993.5:c.*2502C>T	ENSP00000436652.1:n.*2502C>T
NM_001291902.1:c.2153C>T	NP_001278831.1:p.Ser718Phe
NM_002335.3:c.3896C>T	NP_002326.2:p.Ser1299Phe
XM_005273994.2:c.3896C>T	XP_005274051.1:p.Ser1299Phe
XM_011545029.1:c.3923C>T	XP_011543331.1:p.Ser1308Phe
XM_011545030.1:c.3923C>T	XP_011543332.1:p.Ser1308Phe
XM_011545031.1:c.3923C>T	XP_011543333.1:p.Ser1308Phe
XR_949925.1:n.3938C>T
XR_949926.1:n.3938C>T
XM_017017735.1:c.2153C>T	XP_016873224.1:p.Ser718Phe
XM_017017736.1:c.1436C>T	XP_016873225.1:p.Ser479Phe
XR_949925.2:n.3938C>T
XR_949926.2:n.3938C>T
NM_002335.4:c.3896C>T MANE Select	NP_002326.2:p.Ser1299Phe
NM_001291902.2:c.2153C>T	NP_001278831.1:p.Ser718Phe