Canonical Allele Identifier: CA695553

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 684845
• ClinVar RCV Id: RCV000845488 ; RCV001220985 ; RCV003169078 ; RCV003323740 ; RCV001825703
• dbSNP Id: rs764804901
• ExAC: 1:25883751 G / A
• gnomAD v2: 1-25883751-G-A
• gnomAD v3: 1-25557260-G-A
• gnomAD v4: 1-25557260-G-A
• MyVariant Identifiers: chr1:g.25883751G>A (hg19) ; chr1:g.25557260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557260G>A , CM000663.2:g.25557260G>A	GRCh38
NC_000001.10:g.25883751G>A , CM000663.1:g.25883751G>A	GRCh37
NC_000001.9:g.25756338G>A	NCBI36
NG_008932.1:g.18676G>A , LRG_276:g.18676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.452G>A MANE Select	ENSP00000363458.4:p.Arg151Gln
ENST00000374338.4:c.452G>A	ENSP00000363458.4:p.Arg151Gln
ENST00000462394.1:n.200G>A
ENST00000488127.1:n.922G>A
NM_015627.2:c.452G>A , LRG_276t1:c.452G>A	NP_056442.2:p.Arg151Gln
XM_006710559.2:c.452G>A	XP_006710622.1:p.Arg151Gln
XM_006710560.2:c.452G>A	XP_006710623.1:p.Arg151Gln
XM_006710561.2:c.452G>A	XP_006710624.1:p.Arg151Gln
XM_011541209.1:c.452G>A	XP_011539511.1:p.Arg151Gln
XM_011541210.1:c.452G>A	XP_011539512.1:p.Arg151Gln
XM_011541211.1:c.452G>A	XP_011539513.1:p.Arg151Gln
XM_011541212.1:c.452G>A	XP_011539514.1:p.Arg151Gln
XR_426598.2:n.571G>A
XR_946602.1:n.571G>A
XR_946603.1:n.571G>A
XM_006710559.4:c.452G>A	XP_006710622.1:p.Arg151Gln
XM_006710560.4:c.452G>A	XP_006710623.1:p.Arg151Gln
XM_006710561.4:c.452G>A	XP_006710624.1:p.Arg151Gln
XM_011541209.3:c.452G>A	XP_011539511.1:p.Arg151Gln
XM_011541210.3:c.452G>A	XP_011539512.1:p.Arg151Gln
XM_011541211.3:c.452G>A	XP_011539513.1:p.Arg151Gln
XM_011541212.3:c.452G>A	XP_011539514.1:p.Arg151Gln
XM_017000994.2:c.371G>A	XP_016856483.1:p.Arg124Gln
XM_017000995.2:c.452G>A	XP_016856484.1:p.Arg151Gln
XM_024446315.1:c.317G>A	XP_024302083.1:p.Arg106Gln
XR_001737112.2:n.522G>A
XR_001737113.2:n.522G>A
XR_002956258.1:n.522G>A
XR_426598.4:n.522G>A
XR_946602.3:n.522G>A
XR_946603.3:n.522G>A
NM_015627.3:c.452G>A MANE Select	NP_056442.2:p.Arg151Gln