Canonical Allele Identifier: CA5969432

Gene: LRP4

Linked Data

• ClinVar Variation Id: 304864
• ClinVar RCV Id: RCV000734104 ; RCV000288021 ; RCV001082274 ; RCV002522198 ; RCV001820902
• dbSNP Id: rs150681693
• ExAC: 11:46896636 G / A
• gnomAD v2: 11-46896636-G-A
• gnomAD v3: 11-46875085-G-A
• gnomAD v4: 11-46875085-G-A
• MyVariant Identifiers: chr11:g.46896636G>A (hg19) ; chr11:g.46875085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46875085G>A , CM000673.2:g.46875085G>A	GRCh38
NC_000011.9:g.46896636G>A , CM000673.1:g.46896636G>A	GRCh37
NC_000011.8:g.46853212G>A	NCBI36
NG_021394.1:g.48538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.3944C>T MANE Select	ENSP00000367888.1:p.Ser1315Leu
ENST00000378623.5:c.3944C>T	ENSP00000367888.1:p.Ser1315Leu
NM_002334.3:c.3944C>T	NP_002325.2:p.Ser1315Leu
XM_011520102.1:c.4157C>T	XP_011518404.1:p.Ser1386Leu
XM_011520103.1:c.3140C>T	XP_011518405.1:p.Ser1047Leu
XM_011520104.1:c.1709C>T	XP_011518406.1:p.Ser570Leu
XM_011520103.2:c.3140C>T	XP_011518405.1:p.Ser1047Leu
XM_011520104.2:c.1709C>T	XP_011518406.1:p.Ser570Leu
XM_017017734.1:c.3944C>T	XP_016873223.1:p.Ser1315Leu
NM_002334.4:c.3944C>T MANE Select	NP_002325.2:p.Ser1315Leu