Canonical Allele Identifier: CA10585331

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251692
• ClinVar RCV Id: RCV000237945
• dbSNP Id: rs879254809
• gnomAD v4: 19-11111607-T-G
• MyVariant Identifiers: chr19:g.11222283T>G (hg19) ; chr19:g.11111607T>G (hg38)
• PubMed: PMID:10422804
• ERepo: CA10585331/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111607T>G , CM000681.2:g.11111607T>G	GRCh38
NC_000019.9:g.11222283T>G , CM000681.1:g.11222283T>G	GRCh37
NC_000019.8:g.11083283T>G	NCBI36
NG_009060.1:g.27227T>G , LRG_274:g.27227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1412T>G	ENSP00000252444.6:p.Leu471Arg
ENST00000559340.2:c.1154T>G	ENSP00000453696.2:p.Leu385Arg
ENST00000560467.2:c.1034T>G	ENSP00000453513.2:p.Leu345Arg
ENST00000558518.6:c.1154T>G MANE Select	ENSP00000454071.1:p.Leu385Arg
ENST00000252444.9:c.1408T>G
ENST00000455727.6:c.650T>G	ENSP00000397829.2:p.Leu217Arg
ENST00000535915.5:c.1031T>G	ENSP00000440520.1:p.Leu344Arg
ENST00000545707.5:c.773T>G	ENSP00000437639.1:p.Leu258Arg
ENST00000557933.5:c.1154T>G	ENSP00000453557.1:p.Leu385Arg
ENST00000558013.5:c.1154T>G	ENSP00000453346.1:p.Leu385Arg
ENST00000558518.5:c.1154T>G	ENSP00000454071.1:p.Leu385Arg
ENST00000560173.1:n.153T>G
ENST00000560467.1:c.634T>G
NM_000527.4:c.1154T>G , LRG_274t1:c.1154T>G	NP_000518.1:p.Leu385Arg
NM_001195798.1:c.1154T>G	NP_001182727.1:p.Leu385Arg
NM_001195799.1:c.1031T>G	NP_001182728.1:p.Leu344Arg
NM_001195800.1:c.650T>G	NP_001182729.1:p.Leu217Arg
NM_001195803.1:c.773T>G	NP_001182732.1:p.Leu258Arg
XM_011528010.1:c.1154T>G	XP_011526312.1:p.Leu385Arg
XM_011528011.1:c.773T>G	XP_011526313.1:p.Leu258Arg
XR_244074.2:n.1304T>G
XM_011528010.2:c.1154T>G	XP_011526312.1:p.Leu385Arg
XR_001753685.2:n.1271T>G
XR_001753686.2:n.1271T>G
NM_000527.5:c.1154T>G MANE Select	NP_000518.1:p.Leu385Arg
NM_001195798.2:c.1154T>G	NP_001182727.1:p.Leu385Arg
NM_001195799.2:c.1031T>G	NP_001182728.1:p.Leu344Arg
NM_001195800.2:c.650T>G	NP_001182729.1:p.Leu217Arg
NM_001195803.2:c.773T>G	NP_001182732.1:p.Leu258Arg