Canonical Allele Identifier: CA404085864

Gene: LDLR

Linked Data

• ClinVar Variation Id: 633286
• ClinVar RCV Id: RCV000781495 ; RCV000996752 ; RCV001830674
• dbSNP Id: rs730882102
• gnomAD v4: 19-11113590-G-A
• MyVariant Identifiers: chr19:g.11224266G>A (hg19) ; chr19:g.11113590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113590G>A , CM000681.2:g.11113590G>A	GRCh38
NC_000019.9:g.11224266G>A , CM000681.1:g.11224266G>A	GRCh37
NC_000019.8:g.11085266G>A	NCBI36
NG_009060.1:g.29210G>A , LRG_274:g.29210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1672G>A	ENSP00000252444.6:p.Asp558Asn
ENST00000559340.2:c.1414G>A	ENSP00000453696.2:p.Asp472Asn
ENST00000560467.2:c.1294G>A	ENSP00000453513.2:p.Asp432Asn
ENST00000558518.6:c.1414G>A MANE Select	ENSP00000454071.1:p.Asp472Asn
ENST00000252444.9:c.1668G>A
ENST00000455727.6:c.910G>A	ENSP00000397829.2:p.Asp304Asn
ENST00000535915.5:c.1291G>A	ENSP00000440520.1:p.Asp431Asn
ENST00000545707.5:c.1033G>A	ENSP00000437639.1:p.Asp345Asn
ENST00000557933.5:c.1414G>A	ENSP00000453557.1:p.Asp472Asn
ENST00000558013.5:c.1414G>A	ENSP00000453346.1:p.Asp472Asn
ENST00000558518.5:c.1414G>A	ENSP00000454071.1:p.Asp472Asn
ENST00000559340.1:c.135G>A
ENST00000560467.1:c.894G>A
NM_000527.4:c.1414G>A , LRG_274t1:c.1414G>A	NP_000518.1:p.Asp472Asn
NM_001195798.1:c.1414G>A	NP_001182727.1:p.Asp472Asn
NM_001195799.1:c.1291G>A	NP_001182728.1:p.Asp431Asn
NM_001195800.1:c.910G>A	NP_001182729.1:p.Asp304Asn
NM_001195803.1:c.1033G>A	NP_001182732.1:p.Asp345Asn
XM_011528010.1:c.1414G>A	XP_011526312.1:p.Asp472Asn
XM_011528011.1:c.1033G>A	XP_011526313.1:p.Asp345Asn
XR_244074.2:n.1564G>A
XM_011528010.2:c.1414G>A	XP_011526312.1:p.Asp472Asn
XR_001753685.2:n.1531G>A
XR_001753686.2:n.1531G>A
NM_000527.5:c.1414G>A MANE Select	NP_000518.1:p.Asp472Asn
NM_001195798.2:c.1414G>A	NP_001182727.1:p.Asp472Asn
NM_001195799.2:c.1291G>A	NP_001182728.1:p.Asp431Asn
NM_001195800.2:c.910G>A	NP_001182729.1:p.Asp304Asn
NM_001195803.2:c.1033G>A	NP_001182732.1:p.Asp345Asn