Canonical Allele Identifier: CA117067

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 4773
• ClinVar RCV Id: RCV000005039
• dbSNP Id: rs121908324
• gnomAD v3: 1-25543763-G-A
• gnomAD v4: 1-25543763-G-A
• MyVariant Identifiers: chr1:g.25870254G>A (hg19) ; chr1:g.25543763G>A (hg38)
• PubMed: PMID:11326085

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25543763G>A , CM000663.2:g.25543763G>A	GRCh38
NC_000001.10:g.25870254G>A , CM000663.1:g.25870254G>A	GRCh37
NC_000001.9:g.25742841G>A	NCBI36
NG_008932.1:g.5179G>A , LRG_276:g.5179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.65G>A MANE Select	ENSP00000363458.4:p.Trp22Ter
ENST00000374338.4:c.65G>A	ENSP00000363458.4:p.Trp22Ter
NM_015627.2:c.65G>A , LRG_276t1:c.65G>A	NP_056442.2:p.Trp22Ter
XM_006710559.2:c.65G>A	XP_006710622.1:p.Trp22Ter
XM_006710560.2:c.65G>A	XP_006710623.1:p.Trp22Ter
XM_006710561.2:c.65G>A	XP_006710624.1:p.Trp22Ter
XM_011541209.1:c.65G>A	XP_011539511.1:p.Trp22Ter
XM_011541210.1:c.65G>A	XP_011539512.1:p.Trp22Ter
XM_011541211.1:c.65G>A	XP_011539513.1:p.Trp22Ter
XM_011541212.1:c.65G>A	XP_011539514.1:p.Trp22Ter
XR_426598.2:n.184G>A
XR_946602.1:n.184G>A
XR_946603.1:n.184G>A
XM_006710559.4:c.65G>A	XP_006710622.1:p.Trp22Ter
XM_006710560.4:c.65G>A	XP_006710623.1:p.Trp22Ter
XM_006710561.4:c.65G>A	XP_006710624.1:p.Trp22Ter
XM_011541209.3:c.65G>A	XP_011539511.1:p.Trp22Ter
XM_011541210.3:c.65G>A	XP_011539512.1:p.Trp22Ter
XM_011541211.3:c.65G>A	XP_011539513.1:p.Trp22Ter
XM_011541212.3:c.65G>A	XP_011539514.1:p.Trp22Ter
XM_017000995.2:c.65G>A	XP_016856484.1:p.Trp22Ter
XR_001737112.2:n.135G>A
XR_001737113.2:n.135G>A
XR_002956258.1:n.135G>A
XR_426598.4:n.135G>A
XR_946602.3:n.135G>A
XR_946603.3:n.135G>A
NM_015627.3:c.65G>A MANE Select	NP_056442.2:p.Trp22Ter