Canonical Allele Identifier: CA339078730

Gene: LDLRAP1

Linked Data

• dbSNP Id: rs1460110014
• gnomAD v4: 1-25557232-G-A
• MyVariant Identifiers: chr1:g.25883723G>A (hg19) ; chr1:g.25557232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557232G>A , CM000663.2:g.25557232G>A	GRCh38
NC_000001.10:g.25883723G>A , CM000663.1:g.25883723G>A	GRCh37
NC_000001.9:g.25756310G>A	NCBI36
NG_008932.1:g.18648G>A , LRG_276:g.18648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.424G>A MANE Select	ENSP00000363458.4:p.Glu142Lys
ENST00000374338.4:c.424G>A	ENSP00000363458.4:p.Glu142Lys
ENST00000462394.1:n.172G>A
ENST00000488127.1:n.894G>A
NM_015627.2:c.424G>A , LRG_276t1:c.424G>A	NP_056442.2:p.Glu142Lys
XM_006710559.2:c.424G>A	XP_006710622.1:p.Glu142Lys
XM_006710560.2:c.424G>A	XP_006710623.1:p.Glu142Lys
XM_006710561.2:c.424G>A	XP_006710624.1:p.Glu142Lys
XM_011541209.1:c.424G>A	XP_011539511.1:p.Glu142Lys
XM_011541210.1:c.424G>A	XP_011539512.1:p.Glu142Lys
XM_011541211.1:c.424G>A	XP_011539513.1:p.Glu142Lys
XM_011541212.1:c.424G>A	XP_011539514.1:p.Glu142Lys
XR_426598.2:n.543G>A
XR_946602.1:n.543G>A
XR_946603.1:n.543G>A
XM_006710559.4:c.424G>A	XP_006710622.1:p.Glu142Lys
XM_006710560.4:c.424G>A	XP_006710623.1:p.Glu142Lys
XM_006710561.4:c.424G>A	XP_006710624.1:p.Glu142Lys
XM_011541209.3:c.424G>A	XP_011539511.1:p.Glu142Lys
XM_011541210.3:c.424G>A	XP_011539512.1:p.Glu142Lys
XM_011541211.3:c.424G>A	XP_011539513.1:p.Glu142Lys
XM_011541212.3:c.424G>A	XP_011539514.1:p.Glu142Lys
XM_017000994.2:c.343G>A	XP_016856483.1:p.Glu115Lys
XM_017000995.2:c.424G>A	XP_016856484.1:p.Glu142Lys
XM_024446315.1:c.289G>A	XP_024302083.1:p.Glu97Lys
XR_001737112.2:n.494G>A
XR_001737113.2:n.494G>A
XR_002956258.1:n.494G>A
XR_426598.4:n.494G>A
XR_946602.3:n.494G>A
XR_946603.3:n.494G>A
NM_015627.3:c.424G>A MANE Select	NP_056442.2:p.Glu142Lys