Canonical Allele Identifier: CA404086296
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224328C>A (hg19) chr19:g.11113652C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113652C>A , CM000681.2:g.11113652C>A GRCh38
NC_000019.9:g.11224328C>A , CM000681.1:g.11224328C>A GRCh37
NC_000019.8:g.11085328C>A NCBI36
NG_009060.1:g.29272C>A , LRG_274:g.29272C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1734C>A ENSP00000252444.6:p.Asp578Glu
ENST00000559340.2:c.1476C>A ENSP00000453696.2:p.Asp492Glu
ENST00000560467.2:c.1356C>A ENSP00000453513.2:p.Asp452Glu
ENST00000558518.6:c.1476C>A MANE Select ENSP00000454071.1:p.Asp492Glu
ENST00000252444.9:c.1730C>A
ENST00000455727.6:c.972C>A ENSP00000397829.2:p.Asp324Glu
ENST00000535915.5:c.1353C>A ENSP00000440520.1:p.Asp451Glu
ENST00000545707.5:c.1095C>A ENSP00000437639.1:p.Asp365Glu
ENST00000557933.5:c.1476C>A ENSP00000453557.1:p.Asp492Glu
ENST00000558013.5:c.1476C>A ENSP00000453346.1:p.Asp492Glu
ENST00000558518.5:c.1476C>A ENSP00000454071.1:p.Asp492Glu
ENST00000559340.1:c.197C>A
NM_000527.4:c.1476C>A , LRG_274t1:c.1476C>A NP_000518.1:p.Asp492Glu
NM_001195798.1:c.1476C>A NP_001182727.1:p.Asp492Glu
NM_001195799.1:c.1353C>A NP_001182728.1:p.Asp451Glu
NM_001195800.1:c.972C>A NP_001182729.1:p.Asp324Glu
NM_001195803.1:c.1095C>A NP_001182732.1:p.Asp365Glu
XM_011528010.1:c.1476C>A XP_011526312.1:p.Asp492Glu
XM_011528011.1:c.1095C>A XP_011526313.1:p.Asp365Glu
XR_244074.2:n.1626C>A
XM_011528010.2:c.1476C>A XP_011526312.1:p.Asp492Glu
XR_001753685.2:n.1593C>A
XR_001753686.2:n.1593C>A
NM_000527.5:c.1476C>A MANE Select NP_000518.1:p.Asp492Glu
NM_001195798.2:c.1476C>A NP_001182727.1:p.Asp492Glu
NM_001195799.2:c.1353C>A NP_001182728.1:p.Asp451Glu
NM_001195800.2:c.972C>A NP_001182729.1:p.Asp324Glu
NM_001195803.2:c.1095C>A NP_001182732.1:p.Asp365Glu
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