Canonical Allele Identifier: CA10585595

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252012
• ClinVar RCV Id: RCV000238161
• dbSNP Id: rs879255007
• gnomAD v4: 19-11116901-A-G
• MyVariant Identifiers: chr19:g.11227577A>G (hg19) ; chr19:g.11116901A>G (hg38)
• PubMed: PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116901A>G , CM000681.2:g.11116901A>G	GRCh38
NC_000019.9:g.11227577A>G , CM000681.1:g.11227577A>G	GRCh37
NC_000019.8:g.11088577A>G	NCBI36
NG_009060.1:g.32521A>G , LRG_274:g.32521A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2006A>G	ENSP00000252444.6:p.His669Arg
ENST00000559340.2:c.1705+689A>G	ENSP00000453696.2:n.1705+689A>G
ENST00000560467.2:c.1628A>G	ENSP00000453513.2:p.His543Arg
ENST00000558518.6:c.1748A>G MANE Select	ENSP00000454071.1:p.His583Arg
ENST00000252444.9:c.2002A>G
ENST00000455727.6:c.1244A>G	ENSP00000397829.2:p.His415Arg
ENST00000535915.5:c.1625A>G	ENSP00000440520.1:p.His542Arg
ENST00000545707.5:c.1367A>G	ENSP00000437639.1:p.His456Arg
ENST00000557933.5:c.1748A>G	ENSP00000453557.1:p.His583Arg
ENST00000558013.5:c.1748A>G	ENSP00000453346.1:p.His583Arg
ENST00000558518.5:c.1748A>G	ENSP00000454071.1:p.His583Arg
ENST00000559340.1:c.426+689A>G
NM_000527.4:c.1748A>G , LRG_274t1:c.1748A>G	NP_000518.1:p.His583Arg
NM_001195798.1:c.1748A>G	NP_001182727.1:p.His583Arg
NM_001195799.1:c.1625A>G	NP_001182728.1:p.His542Arg
NM_001195800.1:c.1244A>G	NP_001182729.1:p.His415Arg
NM_001195803.1:c.1367A>G	NP_001182732.1:p.His456Arg
XM_011528010.1:c.1748A>G	XP_011526312.1:p.His583Arg
XM_011528011.1:c.1367A>G	XP_011526313.1:p.His456Arg
XR_244074.2:n.1855+689A>G
XM_011528010.2:c.1748A>G	XP_011526312.1:p.His583Arg
XR_001753685.2:n.1865A>G
XR_001753686.2:n.1822+689A>G
NM_000527.5:c.1748A>G MANE Select	NP_000518.1:p.His583Arg
NM_001195798.2:c.1748A>G	NP_001182727.1:p.His583Arg
NM_001195799.2:c.1625A>G	NP_001182728.1:p.His542Arg
NM_001195800.2:c.1244A>G	NP_001182729.1:p.His415Arg
NM_001195803.2:c.1367A>G	NP_001182732.1:p.His456Arg