Canonical Allele Identifier: CA10584851
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251150
ClinVar RCV Id: RCV000237147
dbSNP Id: rs875989898
MyVariant Identifiers: chr19:g.11215900dupC (hg19) chr19:g.11105224dupC (hg38)
PubMed: PMID:11754108 PMID:22698793
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105224dup , CM000681.2:g.11105224dup GRCh38
NC_000019.9:g.11215900dup , CM000681.1:g.11215900dup GRCh37
NC_000019.8:g.11076900dup NCBI36
NG_009060.1:g.20844dup , LRG_274:g.20844dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.576dup ENSP00000252444.6:p.Lys193GlnfsTer23
ENST00000559340.2:c.318dup ENSP00000453696.2:p.Lys107GlnfsTer23
ENST00000560467.2:c.318dup ENSP00000453513.2:p.Lys107GlnfsTer23
ENST00000558518.6:c.318dup MANE Select ENSP00000454071.1:p.Lys107GlnfsTer23
ENST00000252444.9:c.572dup
ENST00000455727.6:c.314-2168dup ENSP00000397829.2:n.314-2168dup
ENST00000535915.5:c.195dup ENSP00000440520.1:p.Lys66GlnfsTer23
ENST00000545707.5:c.314-1341dup ENSP00000437639.1:n.314-1341dup
ENST00000557933.5:c.318dup ENSP00000453557.1:p.Lys107GlnfsTer23
ENST00000558013.5:c.318dup ENSP00000453346.1:p.Lys107GlnfsTer23
ENST00000558518.5:c.318dup ENSP00000454071.1:p.Lys107GlnfsTer23
NM_000527.4:c.318dup , LRG_274t1:c.318dup NP_000518.1:p.Lys107GlnfsTer23
NM_001195798.1:c.318dup NP_001182727.1:p.Lys107GlnfsTer23
NM_001195799.1:c.195dup NP_001182728.1:p.Lys66GlnfsTer23
NM_001195800.1:c.314-2168dup NP_001182729.1:n.314-2168dup
NM_001195803.1:c.314-1341dup NP_001182732.1:n.314-1341dup
XM_011528010.1:c.318dup XP_011526312.1:p.Lys107GlnfsTer23
XM_011528011.1:c.314-1341dup XP_011526313.1:n.314-1341dup
XR_244074.2:n.468dup
XM_011528010.2:c.318dup XP_011526312.1:p.Lys107GlnfsTer23
XR_001753685.2:n.435dup
XR_001753686.2:n.435dup
NM_000527.5:c.318dup MANE Select NP_000518.1:p.Lys107GlnfsTer23
NM_001195798.2:c.318dup NP_001182727.1:p.Lys107GlnfsTer23
NM_001195799.2:c.195dup NP_001182728.1:p.Lys66GlnfsTer23
NM_001195800.2:c.314-2168dup NP_001182729.1:n.314-2168dup
NM_001195803.2:c.314-1341dup NP_001182732.1:n.314-1341dup
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