Canonical Allele Identifier: CA505484960
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1560065
ClinVar RCV Id: RCV002195389
dbSNP Id: rs139043155
MyVariant Identifiers: chr19:g.11217344T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106668T>C , CM000681.2:g.11106668T>C GRCh38
NC_000019.9:g.11217344T>C , CM000681.1:g.11217344T>C GRCh37
NC_000019.8:g.11078344T>C NCBI36
NG_009060.1:g.22288T>C , LRG_274:g.22288T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1056T>C ENSP00000252444.6:p.Asp352=
ENST00000559340.2:c.798T>C ENSP00000453696.2:p.Asp266=
ENST00000560467.2:c.798T>C ENSP00000453513.2:p.Asp266=
ENST00000558518.6:c.798T>C MANE Select ENSP00000454071.1:p.Asp266=
ENST00000252444.9:c.1052T>C
ENST00000455727.6:c.314-724T>C ENSP00000397829.2:n.314-724T>C
ENST00000535915.5:c.675T>C ENSP00000440520.1:p.Asp225=
ENST00000545707.5:c.417T>C ENSP00000437639.1:p.Asp139=
ENST00000557933.5:c.798T>C ENSP00000453557.1:p.Asp266=
ENST00000558013.5:c.798T>C ENSP00000453346.1:p.Asp266=
ENST00000558518.5:c.798T>C ENSP00000454071.1:p.Asp266=
ENST00000558528.1:n.313T>C
ENST00000560467.1:c.398T>C
NM_000527.4:c.798T>C , LRG_274t1:c.798T>C NP_000518.1:p.Asp266=
NM_001195798.1:c.798T>C NP_001182727.1:p.Asp266=
NM_001195799.1:c.675T>C NP_001182728.1:p.Asp225=
NM_001195800.1:c.314-724T>C NP_001182729.1:n.314-724T>C
NM_001195803.1:c.417T>C NP_001182732.1:p.Asp139=
XM_011528010.1:c.798T>C XP_011526312.1:p.Asp266=
XM_011528011.1:c.417T>C XP_011526313.1:p.Asp139=
XR_244074.2:n.948T>C
XM_011528010.2:c.798T>C XP_011526312.1:p.Asp266=
XR_001753685.2:n.915T>C
XR_001753686.2:n.915T>C
NM_000527.5:c.798T>C MANE Select NP_000518.1:p.Asp266=
NM_001195798.2:c.798T>C NP_001182727.1:p.Asp266=
NM_001195799.2:c.675T>C NP_001182728.1:p.Asp225=
NM_001195800.2:c.314-724T>C NP_001182729.1:n.314-724T>C
NM_001195803.2:c.417T>C NP_001182732.1:p.Asp139=
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