Canonical Allele Identifier: CA023564

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183124
• ClinVar RCV Id: RCV000161999 ; RCV000237247
• dbSNP Id: rs730882109
• ExAC: 19:11227576 C / G
• gnomAD v2: 19-11227576-C-G
• gnomAD v4: 19-11116900-C-G
• MyVariant Identifiers: chr19:g.11227576C>G (hg19) ; chr19:g.11116900C>G (hg38)
• PubMed: PMID:23375686 ; PMID:25647241

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116900C>G , CM000681.2:g.11116900C>G	GRCh38
NC_000019.9:g.11227576C>G , CM000681.1:g.11227576C>G	GRCh37
NC_000019.8:g.11088576C>G	NCBI36
NG_009060.1:g.32520C>G , LRG_274:g.32520C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2005C>G	ENSP00000252444.6:p.His669Asp
ENST00000559340.2:c.1705+688C>G	ENSP00000453696.2:n.1705+688C>G
ENST00000560467.2:c.1627C>G	ENSP00000453513.2:p.His543Asp
ENST00000558518.6:c.1747C>G MANE Select	ENSP00000454071.1:p.His583Asp
ENST00000252444.9:c.2001C>G
ENST00000455727.6:c.1243C>G	ENSP00000397829.2:p.His415Asp
ENST00000535915.5:c.1624C>G	ENSP00000440520.1:p.His542Asp
ENST00000545707.5:c.1366C>G	ENSP00000437639.1:p.His456Asp
ENST00000557933.5:c.1747C>G	ENSP00000453557.1:p.His583Asp
ENST00000558013.5:c.1747C>G	ENSP00000453346.1:p.His583Asp
ENST00000558518.5:c.1747C>G	ENSP00000454071.1:p.His583Asp
ENST00000559340.1:c.426+688C>G
NM_000527.4:c.1747C>G , LRG_274t1:c.1747C>G	NP_000518.1:p.His583Asp
NM_001195798.1:c.1747C>G	NP_001182727.1:p.His583Asp
NM_001195799.1:c.1624C>G	NP_001182728.1:p.His542Asp
NM_001195800.1:c.1243C>G	NP_001182729.1:p.His415Asp
NM_001195803.1:c.1366C>G	NP_001182732.1:p.His456Asp
XM_011528010.1:c.1747C>G	XP_011526312.1:p.His583Asp
XM_011528011.1:c.1366C>G	XP_011526313.1:p.His456Asp
XR_244074.2:n.1855+688C>G
XM_011528010.2:c.1747C>G	XP_011526312.1:p.His583Asp
XR_001753685.2:n.1864C>G
XR_001753686.2:n.1822+688C>G
NM_000527.5:c.1747C>G MANE Select	NP_000518.1:p.His583Asp
NM_001195798.2:c.1747C>G	NP_001182727.1:p.His583Asp
NM_001195799.2:c.1624C>G	NP_001182728.1:p.His542Asp
NM_001195800.2:c.1243C>G	NP_001182729.1:p.His415Asp
NM_001195803.2:c.1366C>G	NP_001182732.1:p.His456Asp