Canonical Allele Identifier: CA023585

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183126
• ClinVar RCV Id: RCV000162002 ; RCV000211609 ; RCV001034677
• dbSNP Id: rs201102492
• ExAC: 19:11227613 G / A
• gnomAD v2: 19-11227613-G-A
• gnomAD v3: 19-11116937-G-A
• gnomAD v4: 19-11116937-G-A
• MyVariant Identifiers: chr19:g.11227613G>A (hg19) ; chr19:g.11116937G>A (hg38)
• ERepo: CA023585/MONDO:0007750/013
• PubMed: PMID:15256764 ; PMID:15359125 ; PMID:16250003 ; PMID:25647241 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116937G>A , CM000681.2:g.11116937G>A	GRCh38
NC_000019.9:g.11227613G>A , CM000681.1:g.11227613G>A	GRCh37
NC_000019.8:g.11088613G>A	NCBI36
NG_009060.1:g.32557G>A , LRG_274:g.32557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2042G>A	ENSP00000252444.6:p.Arg681Gln
ENST00000559340.2:c.1705+725G>A	ENSP00000453696.2:n.1705+725G>A
ENST00000560467.2:c.1664G>A	ENSP00000453513.2:p.Arg555Gln
ENST00000558518.6:c.1784G>A MANE Select	ENSP00000454071.1:p.Arg595Gln
ENST00000252444.9:c.2038G>A
ENST00000455727.6:c.1280G>A	ENSP00000397829.2:p.Arg427Gln
ENST00000535915.5:c.1661G>A	ENSP00000440520.1:p.Arg554Gln
ENST00000545707.5:c.1403G>A	ENSP00000437639.1:p.Arg468Gln
ENST00000557933.5:c.1784G>A	ENSP00000453557.1:p.Arg595Gln
ENST00000558013.5:c.1784G>A	ENSP00000453346.1:p.Arg595Gln
ENST00000558518.5:c.1784G>A	ENSP00000454071.1:p.Arg595Gln
ENST00000559340.1:c.426+725G>A
NM_000527.4:c.1784G>A , LRG_274t1:c.1784G>A	NP_000518.1:p.Arg595Gln
NM_001195798.1:c.1784G>A	NP_001182727.1:p.Arg595Gln
NM_001195799.1:c.1661G>A	NP_001182728.1:p.Arg554Gln
NM_001195800.1:c.1280G>A	NP_001182729.1:p.Arg427Gln
NM_001195803.1:c.1403G>A	NP_001182732.1:p.Arg468Gln
XM_011528010.1:c.1784G>A	XP_011526312.1:p.Arg595Gln
XM_011528011.1:c.1403G>A	XP_011526313.1:p.Arg468Gln
XR_244074.2:n.1855+725G>A
XM_011528010.2:c.1784G>A	XP_011526312.1:p.Arg595Gln
XR_001753685.2:n.1901G>A
XR_001753686.2:n.1822+725G>A
NM_000527.5:c.1784G>A MANE Select	NP_000518.1:p.Arg595Gln
NM_001195798.2:c.1784G>A	NP_001182727.1:p.Arg595Gln
NM_001195799.2:c.1661G>A	NP_001182728.1:p.Arg554Gln
NM_001195800.2:c.1280G>A	NP_001182729.1:p.Arg427Gln
NM_001195803.2:c.1403G>A	NP_001182732.1:p.Arg468Gln