Canonical Allele Identifier: CA10585773

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252220
• ClinVar RCV Id: RCV000237371
• dbSNP Id: rs879255139
• MyVariant Identifiers: chr19:g.11231157A>G (hg19) ; chr19:g.11120481A>G (hg38)
• PubMed: PMID:11668640 ; PMID:22353362
• ERepo: CA10585773/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120481A>G , CM000681.2:g.11120481A>G	GRCh38
NC_000019.9:g.11231157A>G , CM000681.1:g.11231157A>G	GRCh37
NC_000019.8:g.11092157A>G	NCBI36
NG_009060.1:g.36101A>G , LRG_274:g.36101A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2357A>G	ENSP00000252444.6:p.Asp786Gly
ENST00000559340.2:c.*168A>G	ENSP00000453696.2:n.*168A>G
ENST00000560467.2:c.1979A>G	ENSP00000453513.2:p.Asp660Gly
ENST00000558518.6:c.2099A>G MANE Select	ENSP00000454071.1:p.Asp700Gly
ENST00000252444.9:c.2353A>G
ENST00000455727.6:c.1595A>G	ENSP00000397829.2:p.Asp532Gly
ENST00000535915.5:c.1976A>G	ENSP00000440520.1:p.Asp659Gly
ENST00000545707.5:c.1606+248A>G	ENSP00000437639.1:n.1606+248A>G
ENST00000557933.5:c.2099A>G	ENSP00000453557.1:p.Asp700Gly
ENST00000558013.5:c.2099A>G	ENSP00000453346.1:p.Asp700Gly
ENST00000558518.5:c.2099A>G	ENSP00000454071.1:p.Asp700Gly
NM_000527.4:c.2099A>G , LRG_274t1:c.2099A>G	NP_000518.1:p.Asp700Gly
NM_001195798.1:c.2099A>G	NP_001182727.1:p.Asp700Gly
NM_001195799.1:c.1976A>G	NP_001182728.1:p.Asp659Gly
NM_001195800.1:c.1595A>G	NP_001182729.1:p.Asp532Gly
NM_001195803.1:c.1606+248A>G	NP_001182732.1:n.1606+248A>G
XM_011528010.1:c.2099A>G	XP_011526312.1:p.Asp700Gly
XM_011528011.1:c.1718A>G	XP_011526313.1:p.Asp573Gly
XR_244074.2:n.2109A>G
XM_011528010.2:c.2099A>G	XP_011526312.1:p.Asp700Gly
XR_001753685.2:n.2216A>G
XR_001753686.2:n.2076A>G
NM_000527.5:c.2099A>G MANE Select	NP_000518.1:p.Asp700Gly
NM_001195798.2:c.2099A>G	NP_001182727.1:p.Asp700Gly
NM_001195799.2:c.1976A>G	NP_001182728.1:p.Asp659Gly
NM_001195800.2:c.1595A>G	NP_001182729.1:p.Asp532Gly
NM_001195803.2:c.1606+248A>G	NP_001182732.1:n.1606+248A>G