Canonical Allele Identifier: CA023782

Gene: LDLR

Linked Data

• ClinVar Variation Id: 161280
• ClinVar RCV Id: RCV000237748 ; RCV001176040 ; RCV002051673 ; RCV002444606 ; RCV002307407
• dbSNP Id: rs375495026
• ExAC: 19:11218109 G / A
• gnomAD v2: 19-11218109-G-A
• gnomAD v3: 19-11107433-G-A
• gnomAD v4: 19-11107433-G-A
• MyVariant Identifiers: chr19:g.11218109G>A (hg19) ; chr19:g.11107433G>A (hg38)
• PubMed: PMID:23669246 ; PMID:25363768
• ERepo: CA023782/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107433G>A , CM000681.2:g.11107433G>A	GRCh38
NC_000019.9:g.11218109G>A , CM000681.1:g.11218109G>A	GRCh37
NC_000019.8:g.11079109G>A	NCBI36
NG_009060.1:g.23053G>A , LRG_274:g.23053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1117G>A	ENSP00000252444.6:p.Gly373Ser
ENST00000559340.2:c.859G>A	ENSP00000453696.2:p.Gly287Ser
ENST00000560467.2:c.859G>A	ENSP00000453513.2:p.Gly287Ser
ENST00000558518.6:c.859G>A MANE Select	ENSP00000454071.1:p.Gly287Ser
ENST00000252444.9:c.1113G>A
ENST00000455727.6:c.355G>A	ENSP00000397829.2:p.Gly119Ser
ENST00000535915.5:c.736G>A	ENSP00000440520.1:p.Gly246Ser
ENST00000545707.5:c.478G>A	ENSP00000437639.1:p.Gly160Ser
ENST00000557933.5:c.859G>A	ENSP00000453557.1:p.Gly287Ser
ENST00000558013.5:c.859G>A	ENSP00000453346.1:p.Gly287Ser
ENST00000558518.5:c.859G>A	ENSP00000454071.1:p.Gly287Ser
ENST00000558528.1:n.374G>A
ENST00000560467.1:c.459G>A
NM_000527.4:c.859G>A , LRG_274t1:c.859G>A	NP_000518.1:p.Gly287Ser
NM_001195798.1:c.859G>A	NP_001182727.1:p.Gly287Ser
NM_001195799.1:c.736G>A	NP_001182728.1:p.Gly246Ser
NM_001195800.1:c.355G>A	NP_001182729.1:p.Gly119Ser
NM_001195803.1:c.478G>A	NP_001182732.1:p.Gly160Ser
XM_011528010.1:c.859G>A	XP_011526312.1:p.Gly287Ser
XM_011528011.1:c.478G>A	XP_011526313.1:p.Gly160Ser
XR_244074.2:n.1009G>A
XM_011528010.2:c.859G>A	XP_011526312.1:p.Gly287Ser
XR_001753685.2:n.976G>A
XR_001753686.2:n.976G>A
NM_000527.5:c.859G>A MANE Select	NP_000518.1:p.Gly287Ser
NM_001195798.2:c.859G>A	NP_001182727.1:p.Gly287Ser
NM_001195799.2:c.736G>A	NP_001182728.1:p.Gly246Ser
NM_001195800.2:c.355G>A	NP_001182729.1:p.Gly119Ser
NM_001195803.2:c.478G>A	NP_001182732.1:p.Gly160Ser