Canonical Allele Identifier: CA10585808

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252257
• ClinVar RCV Id: RCV000238437
• dbSNP Id: rs879255165
• MyVariant Identifiers: chr19:g.11233918A>G (hg19) ; chr19:g.11123242A>G (hg38)
• PubMed: PMID:17694954

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123242A>G , CM000681.2:g.11123242A>G	GRCh38
NC_000019.9:g.11233918A>G , CM000681.1:g.11233918A>G	GRCh37
NC_000019.8:g.11094918A>G	NCBI36
NG_009060.1:g.38862A>G , LRG_274:g.38862A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2467A>G	ENSP00000252444.6:p.Arg823Gly
ENST00000559340.2:c.*278A>G	ENSP00000453696.2:n.*278A>G
ENST00000560467.2:c.2089A>G	ENSP00000453513.2:p.Arg697Gly
ENST00000558518.6:c.2209A>G MANE Select	ENSP00000454071.1:p.Arg737Gly
ENST00000252444.9:c.2463A>G
ENST00000455727.6:c.1705A>G	ENSP00000397829.2:p.Arg569Gly
ENST00000535915.5:c.2086A>G	ENSP00000440520.1:p.Arg696Gly
ENST00000545707.5:c.1675A>G	ENSP00000437639.1:p.Arg559Gly
ENST00000557933.5:c.2209A>G	ENSP00000453557.1:p.Arg737Gly
ENST00000558013.5:c.2209A>G	ENSP00000453346.1:p.Arg737Gly
ENST00000558518.5:c.2209A>G	ENSP00000454071.1:p.Arg737Gly
NM_000527.4:c.2209A>G , LRG_274t1:c.2209A>G	NP_000518.1:p.Arg737Gly
NM_001195798.1:c.2209A>G	NP_001182727.1:p.Arg737Gly
NM_001195799.1:c.2086A>G	NP_001182728.1:p.Arg696Gly
NM_001195800.1:c.1705A>G	NP_001182729.1:p.Arg569Gly
NM_001195803.1:c.1675A>G	NP_001182732.1:p.Arg559Gly
XM_011528010.1:c.2209A>G	XP_011526312.1:p.Arg737Gly
XM_011528011.1:c.1828A>G	XP_011526313.1:p.Arg610Gly
XR_244074.2:n.2219A>G
XM_011528010.2:c.2209A>G	XP_011526312.1:p.Arg737Gly
XR_001753685.2:n.2543A>G
XR_001753686.2:n.2186A>G
NM_000527.5:c.2209A>G MANE Select	NP_000518.1:p.Arg737Gly
NM_001195798.2:c.2209A>G	NP_001182727.1:p.Arg737Gly
NM_001195799.2:c.2086A>G	NP_001182728.1:p.Arg696Gly
NM_001195800.2:c.1705A>G	NP_001182729.1:p.Arg569Gly
NM_001195803.2:c.1675A>G	NP_001182732.1:p.Arg559Gly