Canonical Allele Identifier: CA404098928
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1332142
ClinVar RCV Id: RCV001804658
dbSNP Id: rs2147287069
MyVariant Identifiers: chr19:g.11240251A>G (hg19) chr19:g.11129575A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129575A>G , CM000681.2:g.11129575A>G GRCh38
NC_000019.9:g.11240251A>G , CM000681.1:g.11240251A>G GRCh37
NC_000019.8:g.11101251A>G NCBI36
NG_009060.1:g.45195A>G , LRG_274:g.45195A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2710A>G ENSP00000252444.6:p.Ile904Val
ENST00000559340.2:c.*521A>G ENSP00000453696.2:n.*521A>G
ENST00000560467.2:c.2332A>G ENSP00000453513.2:p.Ile778Val
ENST00000558518.6:c.2452A>G MANE Select ENSP00000454071.1:p.Ile818Val
ENST00000252444.9:c.2706A>G
ENST00000455727.6:c.1948A>G ENSP00000397829.2:p.Ile650Val
ENST00000535915.5:c.2329A>G ENSP00000440520.1:p.Ile777Val
ENST00000545707.5:c.1918A>G ENSP00000437639.1:p.Ile640Val
ENST00000557933.5:c.2514A>G ENSP00000453557.1:p.Thr838=
ENST00000558013.5:c.2452A>G ENSP00000453346.1:p.Ile818Val
ENST00000558518.5:c.2452A>G ENSP00000454071.1:p.Ile818Val
ENST00000560628.1:n.108+1921A>G
NM_000527.4:c.2452A>G , LRG_274t1:c.2452A>G NP_000518.1:p.Ile818Val
NM_001195798.1:c.2452A>G NP_001182727.1:p.Ile818Val
NM_001195799.1:c.2329A>G NP_001182728.1:p.Ile777Val
NM_001195800.1:c.1948A>G NP_001182729.1:p.Ile650Val
NM_001195803.1:c.1918A>G NP_001182732.1:p.Ile640Val
XM_011528010.1:c.2374A>G XP_011526312.1:p.Ile792Val
XM_011528011.1:c.2071A>G XP_011526313.1:p.Ile691Val
XR_244074.2:n.2462A>G
XM_011528010.2:c.2374A>G XP_011526312.1:p.Ile792Val
XR_001753685.2:n.2786A>G
XR_001753686.2:n.2429A>G
NM_000527.5:c.2452A>G MANE Select NP_000518.1:p.Ile818Val
NM_001195798.2:c.2452A>G NP_001182727.1:p.Ile818Val
NM_001195799.2:c.2329A>G NP_001182728.1:p.Ile777Val
NM_001195800.2:c.1948A>G NP_001182729.1:p.Ile650Val
NM_001195803.2:c.1918A>G NP_001182732.1:p.Ile640Val
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