Canonical Allele Identifier: CA031880

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251643
• ClinVar RCV Id: RCV000238202 ; RCV000522393 ; RCV001182457 ; RCV002411083 ; RCV003387819
• dbSNP Id: rs767767730
• ExAC: 19:11222195 G / A
• gnomAD v2: 19-11222195-G-A
• gnomAD v3: 19-11111519-G-A
• gnomAD v4: 19-11111519-G-A
• MyVariant Identifiers: chr19:g.11222195G>A (hg19) ; chr19:g.11111519G>A (hg38)
• PubMed: PMID:15998910 ; PMID:20145306

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111519G>A , CM000681.2:g.11111519G>A	GRCh38
NC_000019.9:g.11222195G>A , CM000681.1:g.11222195G>A	GRCh37
NC_000019.8:g.11083195G>A	NCBI36
NG_009060.1:g.27139G>A , LRG_274:g.27139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1324G>A	ENSP00000252444.6:p.Asp442Asn
ENST00000559340.2:c.1066G>A	ENSP00000453696.2:p.Asp356Asn
ENST00000560467.2:c.946G>A	ENSP00000453513.2:p.Asp316Asn
ENST00000558518.6:c.1066G>A MANE Select	ENSP00000454071.1:p.Asp356Asn
ENST00000252444.9:c.1320G>A
ENST00000455727.6:c.562G>A	ENSP00000397829.2:p.Asp188Asn
ENST00000535915.5:c.943G>A	ENSP00000440520.1:p.Asp315Asn
ENST00000545707.5:c.685G>A	ENSP00000437639.1:p.Asp229Asn
ENST00000557933.5:c.1066G>A	ENSP00000453557.1:p.Asp356Asn
ENST00000558013.5:c.1066G>A	ENSP00000453346.1:p.Asp356Asn
ENST00000558518.5:c.1066G>A	ENSP00000454071.1:p.Asp356Asn
ENST00000560173.1:n.65G>A
ENST00000560467.1:c.546G>A
NM_000527.4:c.1066G>A , LRG_274t1:c.1066G>A	NP_000518.1:p.Asp356Asn
NM_001195798.1:c.1066G>A	NP_001182727.1:p.Asp356Asn
NM_001195799.1:c.943G>A	NP_001182728.1:p.Asp315Asn
NM_001195800.1:c.562G>A	NP_001182729.1:p.Asp188Asn
NM_001195803.1:c.685G>A	NP_001182732.1:p.Asp229Asn
XM_011528010.1:c.1066G>A	XP_011526312.1:p.Asp356Asn
XM_011528011.1:c.685G>A	XP_011526313.1:p.Asp229Asn
XR_244074.2:n.1216G>A
XM_011528010.2:c.1066G>A	XP_011526312.1:p.Asp356Asn
XR_001753685.2:n.1183G>A
XR_001753686.2:n.1183G>A
NM_000527.5:c.1066G>A MANE Select	NP_000518.1:p.Asp356Asn
NM_001195798.2:c.1066G>A	NP_001182727.1:p.Asp356Asn
NM_001195799.2:c.943G>A	NP_001182728.1:p.Asp315Asn
NM_001195800.2:c.562G>A	NP_001182729.1:p.Asp188Asn
NM_001195803.2:c.685G>A	NP_001182732.1:p.Asp229Asn