Canonical Allele Identifier: CA10585367

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251743
• ClinVar RCV Id: RCV000237409
• dbSNP Id: rs879254840
• gnomAD v4: 19-11113322-A-G
• MyVariant Identifiers: chr19:g.11223998A>G (hg19) ; chr19:g.11113322A>G (hg38)
• PubMed: PMID:16542394

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113322A>G , CM000681.2:g.11113322A>G	GRCh38
NC_000019.9:g.11223998A>G , CM000681.1:g.11223998A>G	GRCh37
NC_000019.8:g.11084998A>G	NCBI36
NG_009060.1:g.28942A>G , LRG_274:g.28942A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1489A>G	ENSP00000252444.6:p.Lys497Glu
ENST00000559340.2:c.1231A>G	ENSP00000453696.2:p.Lys411Glu
ENST00000560467.2:c.1111A>G	ENSP00000453513.2:p.Lys371Glu
ENST00000558518.6:c.1231A>G MANE Select	ENSP00000454071.1:p.Lys411Glu
ENST00000252444.9:c.1485A>G
ENST00000455727.6:c.727A>G	ENSP00000397829.2:p.Lys243Glu
ENST00000535915.5:c.1108A>G	ENSP00000440520.1:p.Lys370Glu
ENST00000545707.5:c.850A>G	ENSP00000437639.1:p.Lys284Glu
ENST00000557933.5:c.1231A>G	ENSP00000453557.1:p.Lys411Glu
ENST00000558013.5:c.1231A>G	ENSP00000453346.1:p.Lys411Glu
ENST00000558518.5:c.1231A>G	ENSP00000454071.1:p.Lys411Glu
ENST00000560173.1:n.230A>G
ENST00000560467.1:c.711A>G
NM_000527.4:c.1231A>G , LRG_274t1:c.1231A>G	NP_000518.1:p.Lys411Glu
NM_001195798.1:c.1231A>G	NP_001182727.1:p.Lys411Glu
NM_001195799.1:c.1108A>G	NP_001182728.1:p.Lys370Glu
NM_001195800.1:c.727A>G	NP_001182729.1:p.Lys243Glu
NM_001195803.1:c.850A>G	NP_001182732.1:p.Lys284Glu
XM_011528010.1:c.1231A>G	XP_011526312.1:p.Lys411Glu
XM_011528011.1:c.850A>G	XP_011526313.1:p.Lys284Glu
XR_244074.2:n.1381A>G
XM_011528010.2:c.1231A>G	XP_011526312.1:p.Lys411Glu
XR_001753685.2:n.1348A>G
XR_001753686.2:n.1348A>G
NM_000527.5:c.1231A>G MANE Select	NP_000518.1:p.Lys411Glu
NM_001195798.2:c.1231A>G	NP_001182727.1:p.Lys411Glu
NM_001195799.2:c.1108A>G	NP_001182728.1:p.Lys370Glu
NM_001195800.2:c.727A>G	NP_001182729.1:p.Lys243Glu
NM_001195803.2:c.850A>G	NP_001182732.1:p.Lys284Glu