Canonical Allele Identifier: CA031858

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251639
• ClinVar RCV Id: RCV000237417 ; RCV000775053 ; RCV002401934 ; RCV003477853
• dbSNP Id: rs755449669
• ExAC: 19:11222190 A / G
• gnomAD v2: 19-11222190-A-G
• gnomAD v3: 19-11111514-A-G
• gnomAD v4: 19-11111514-A-G
• MyVariant Identifiers: chr19:g.11222190A>G (hg19) ; chr19:g.11111514A>G (hg38)
• PubMed: PMID:1301956 ; PMID:11810272 ; PMID:20145306 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111514A>G , CM000681.2:g.11111514A>G	GRCh38
NC_000019.9:g.11222190A>G , CM000681.1:g.11222190A>G	GRCh37
NC_000019.8:g.11083190A>G	NCBI36
NG_009060.1:g.27134A>G , LRG_274:g.27134A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1319A>G	ENSP00000252444.6:p.Asp440Gly
ENST00000559340.2:c.1061A>G	ENSP00000453696.2:p.Asp354Gly
ENST00000560467.2:c.941A>G	ENSP00000453513.2:p.Asp314Gly
ENST00000558518.6:c.1061A>G MANE Select	ENSP00000454071.1:p.Asp354Gly
ENST00000252444.9:c.1315A>G
ENST00000455727.6:c.557A>G	ENSP00000397829.2:p.Asp186Gly
ENST00000535915.5:c.938A>G	ENSP00000440520.1:p.Asp313Gly
ENST00000545707.5:c.680A>G	ENSP00000437639.1:p.Asp227Gly
ENST00000557933.5:c.1061A>G	ENSP00000453557.1:p.Asp354Gly
ENST00000558013.5:c.1061A>G	ENSP00000453346.1:p.Asp354Gly
ENST00000558518.5:c.1061A>G	ENSP00000454071.1:p.Asp354Gly
ENST00000560173.1:n.60A>G
ENST00000560467.1:c.541A>G
NM_000527.4:c.1061A>G , LRG_274t1:c.1061A>G	NP_000518.1:p.Asp354Gly
NM_001195798.1:c.1061A>G	NP_001182727.1:p.Asp354Gly
NM_001195799.1:c.938A>G	NP_001182728.1:p.Asp313Gly
NM_001195800.1:c.557A>G	NP_001182729.1:p.Asp186Gly
NM_001195803.1:c.680A>G	NP_001182732.1:p.Asp227Gly
XM_011528010.1:c.1061A>G	XP_011526312.1:p.Asp354Gly
XM_011528011.1:c.680A>G	XP_011526313.1:p.Asp227Gly
XR_244074.2:n.1211A>G
XM_011528010.2:c.1061A>G	XP_011526312.1:p.Asp354Gly
XR_001753685.2:n.1178A>G
XR_001753686.2:n.1178A>G
NM_000527.5:c.1061A>G MANE Select	NP_000518.1:p.Asp354Gly
NM_001195798.2:c.1061A>G	NP_001182727.1:p.Asp354Gly
NM_001195799.2:c.938A>G	NP_001182728.1:p.Asp313Gly
NM_001195800.2:c.557A>G	NP_001182729.1:p.Asp186Gly
NM_001195803.2:c.680A>G	NP_001182732.1:p.Asp227Gly