Canonical Allele Identifier: CA404092882
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230835A>T (hg19) chr19:g.11120159A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120159A>T , CM000681.2:g.11120159A>T GRCh38
NC_000019.9:g.11230835A>T , CM000681.1:g.11230835A>T GRCh37
NC_000019.8:g.11091835A>T NCBI36
NG_009060.1:g.35779A>T , LRG_274:g.35779A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2171A>T ENSP00000252444.6:p.Asp724Val
ENST00000559340.2:c.1773A>T ENSP00000453696.2:p.Arg591=
ENST00000560467.2:c.1793A>T ENSP00000453513.2:p.Asp598Val
ENST00000558518.6:c.1913A>T MANE Select ENSP00000454071.1:p.Asp638Val
ENST00000252444.9:c.2167A>T
ENST00000455727.6:c.1409A>T ENSP00000397829.2:p.Asp470Val
ENST00000535915.5:c.1790A>T ENSP00000440520.1:p.Asp597Val
ENST00000545707.5:c.1532A>T ENSP00000437639.1:p.Asp511Val
ENST00000557933.5:c.1913A>T ENSP00000453557.1:p.Asp638Val
ENST00000558013.5:c.1913A>T ENSP00000453346.1:p.Asp638Val
ENST00000558518.5:c.1913A>T ENSP00000454071.1:p.Asp638Val
ENST00000559340.1:c.494A>T
NM_000527.4:c.1913A>T , LRG_274t1:c.1913A>T NP_000518.1:p.Asp638Val
NM_001195798.1:c.1913A>T NP_001182727.1:p.Asp638Val
NM_001195799.1:c.1790A>T NP_001182728.1:p.Asp597Val
NM_001195800.1:c.1409A>T NP_001182729.1:p.Asp470Val
NM_001195803.1:c.1532A>T NP_001182732.1:p.Asp511Val
XM_011528010.1:c.1913A>T XP_011526312.1:p.Asp638Val
XM_011528011.1:c.1532A>T XP_011526313.1:p.Asp511Val
XR_244074.2:n.1923A>T
XM_011528010.2:c.1913A>T XP_011526312.1:p.Asp638Val
XR_001753685.2:n.2030A>T
XR_001753686.2:n.1890A>T
NM_000527.5:c.1913A>T MANE Select NP_000518.1:p.Asp638Val
NM_001195798.2:c.1913A>T NP_001182727.1:p.Asp638Val
NM_001195799.2:c.1790A>T NP_001182728.1:p.Asp597Val
NM_001195800.2:c.1409A>T NP_001182729.1:p.Asp470Val
NM_001195803.2:c.1532A>T NP_001182732.1:p.Asp511Val
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