Canonical Allele Identifier: CA380273618

Gene: LRP4

Linked Data

• dbSNP Id: rs387906883
• gnomAD v2: 11-46897497-C-T
• MyVariant Identifiers: chr11:g.46897497C>T (hg19) ; chr11:g.46875946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46875946C>T , CM000673.2:g.46875946C>T	GRCh38
NC_000011.9:g.46897497C>T , CM000673.1:g.46897497C>T	GRCh37
NC_000011.8:g.46854073C>T	NCBI36
NG_021394.1:g.47677G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378623.6:c.3557G>A MANE Select	ENSP00000367888.1:p.Trp1186Ter
ENST00000378623.5:c.3557G>A	ENSP00000367888.1:p.Trp1186Ter
NM_002334.3:c.3557G>A	NP_002325.2:p.Trp1186Ter
XM_011520102.1:c.3770G>A	XP_011518404.1:p.Trp1257Ter
XM_011520103.1:c.2753G>A	XP_011518405.1:p.Trp918Ter
XM_011520104.1:c.1322G>A	XP_011518406.1:p.Trp441Ter
XM_011520103.2:c.2753G>A	XP_011518405.1:p.Trp918Ter
XM_011520104.2:c.1322G>A	XP_011518406.1:p.Trp441Ter
XM_017017734.1:c.3557G>A	XP_016873223.1:p.Trp1186Ter
NM_002334.4:c.3557G>A MANE Select	NP_002325.2:p.Trp1186Ter