Canonical Allele Identifier: CA16620736
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 419334
ClinVar RCV Id: RCV000482458 RCV003401521
dbSNP Id: rs1064793799
gnomAD v4: 19-11102789-A-C
MyVariant Identifiers: chr19:g.11213465A>C (hg19) chr19:g.11102789A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102789A>C , CM000681.2:g.11102789A>C GRCh38
NC_000019.9:g.11213465A>C , CM000681.1:g.11213465A>C GRCh37
NC_000019.8:g.11074465A>C NCBI36
NG_009060.1:g.18409A>C , LRG_274:g.18409A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.571+3A>C ENSP00000252444.6:n.571+3A>C
ENST00000559340.2:c.313+3A>C ENSP00000453696.2:n.313+3A>C
ENST00000560467.2:c.313+3A>C ENSP00000453513.2:n.313+3A>C
ENST00000558518.6:c.313+3A>C MANE Select ENSP00000454071.1:n.313+3A>C
ENST00000252444.9:c.567+3A>C
ENST00000455727.6:c.313+3A>C ENSP00000397829.2:n.313+3A>C
ENST00000535915.5:c.191-2431A>C ENSP00000440520.1:n.191-2431A>C
ENST00000545707.5:c.313+3A>C ENSP00000437639.1:n.313+3A>C
ENST00000557933.5:c.313+3A>C ENSP00000453557.1:n.313+3A>C
ENST00000557958.1:n.402A>C
ENST00000558013.5:c.313+3A>C ENSP00000453346.1:n.313+3A>C
ENST00000558518.5:c.313+3A>C ENSP00000454071.1:n.313+3A>C
NM_000527.4:c.313+3A>C , LRG_274t1:c.313+3A>C NP_000518.1:n.313+3A>C
NM_001195798.1:c.313+3A>C NP_001182727.1:n.313+3A>C
NM_001195799.1:c.191-2431A>C NP_001182728.1:n.191-2431A>C
NM_001195800.1:c.313+3A>C NP_001182729.1:n.313+3A>C
NM_001195803.1:c.313+3A>C NP_001182732.1:n.313+3A>C
XM_011528010.1:c.313+3A>C XP_011526312.1:n.313+3A>C
XM_011528011.1:c.313+3A>C XP_011526313.1:n.313+3A>C
XR_244074.2:n.463+3A>C
XM_011528010.2:c.313+3A>C XP_011526312.1:n.313+3A>C
XR_001753685.2:n.430+3A>C
XR_001753686.2:n.430+3A>C
NM_000527.5:c.313+3A>C MANE Select NP_000518.1:n.313+3A>C
NM_001195798.2:c.313+3A>C NP_001182727.1:n.313+3A>C
NM_001195799.2:c.191-2431A>C NP_001182728.1:n.191-2431A>C
NM_001195800.2:c.313+3A>C NP_001182729.1:n.313+3A>C
NM_001195803.2:c.313+3A>C NP_001182732.1:n.313+3A>C
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