Canonical Allele Identifier: CA10585312

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251673
• ClinVar RCV Id: RCV000237895 ; RCV000791447 ; RCV002243924 ; RCV002436075
• dbSNP Id: rs879254797
• gnomAD v2: 19-11222247-G-A
• gnomAD v3: 19-11111571-G-A
• gnomAD v4: 19-11111571-G-A
• MyVariant Identifiers: chr19:g.11222247G>A (hg19) ; chr19:g.11111571G>A (hg38)
• PubMed: PMID:9974426 ; PMID:11810272 ; PMID:11933210 ; PMID:15241806

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111571G>A , CM000681.2:g.11111571G>A	GRCh38
NC_000019.9:g.11222247G>A , CM000681.1:g.11222247G>A	GRCh37
NC_000019.8:g.11083247G>A	NCBI36
NG_009060.1:g.27191G>A , LRG_274:g.27191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1376G>A	ENSP00000252444.6:p.Gly459Asp
ENST00000559340.2:c.1118G>A	ENSP00000453696.2:p.Gly373Asp
ENST00000560467.2:c.998G>A	ENSP00000453513.2:p.Gly333Asp
ENST00000558518.6:c.1118G>A MANE Select	ENSP00000454071.1:p.Gly373Asp
ENST00000252444.9:c.1372G>A
ENST00000455727.6:c.614G>A	ENSP00000397829.2:p.Gly205Asp
ENST00000535915.5:c.995G>A	ENSP00000440520.1:p.Gly332Asp
ENST00000545707.5:c.737G>A	ENSP00000437639.1:p.Gly246Asp
ENST00000557933.5:c.1118G>A	ENSP00000453557.1:p.Gly373Asp
ENST00000558013.5:c.1118G>A	ENSP00000453346.1:p.Gly373Asp
ENST00000558518.5:c.1118G>A	ENSP00000454071.1:p.Gly373Asp
ENST00000560173.1:n.117G>A
ENST00000560467.1:c.598G>A
NM_000527.4:c.1118G>A , LRG_274t1:c.1118G>A	NP_000518.1:p.Gly373Asp
NM_001195798.1:c.1118G>A	NP_001182727.1:p.Gly373Asp
NM_001195799.1:c.995G>A	NP_001182728.1:p.Gly332Asp
NM_001195800.1:c.614G>A	NP_001182729.1:p.Gly205Asp
NM_001195803.1:c.737G>A	NP_001182732.1:p.Gly246Asp
XM_011528010.1:c.1118G>A	XP_011526312.1:p.Gly373Asp
XM_011528011.1:c.737G>A	XP_011526313.1:p.Gly246Asp
XR_244074.2:n.1268G>A
XM_011528010.2:c.1118G>A	XP_011526312.1:p.Gly373Asp
XR_001753685.2:n.1235G>A
XR_001753686.2:n.1235G>A
NM_000527.5:c.1118G>A MANE Select	NP_000518.1:p.Gly373Asp
NM_001195798.2:c.1118G>A	NP_001182727.1:p.Gly373Asp
NM_001195799.2:c.995G>A	NP_001182728.1:p.Gly332Asp
NM_001195800.2:c.614G>A	NP_001182729.1:p.Gly205Asp
NM_001195803.2:c.737G>A	NP_001182732.1:p.Gly246Asp