Canonical Allele Identifier: CA404092879
Gene: LDLR HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2171A>G ENSP00000252444.6:p.Asp724Gly
ENST00000559340.2:c.1773A>G ENSP00000453696.2:p.Arg591=
ENST00000560467.2:c.1793A>G ENSP00000453513.2:p.Asp598Gly
ENST00000558518.6:c.1913A>G MANE Select ENSP00000454071.1:p.Asp638Gly
ENST00000252444.9:c.2167A>G
ENST00000455727.6:c.1409A>G ENSP00000397829.2:p.Asp470Gly
ENST00000535915.5:c.1790A>G ENSP00000440520.1:p.Asp597Gly
ENST00000545707.5:c.1532A>G ENSP00000437639.1:p.Asp511Gly
ENST00000557933.5:c.1913A>G ENSP00000453557.1:p.Asp638Gly
ENST00000558013.5:c.1913A>G ENSP00000453346.1:p.Asp638Gly
ENST00000558518.5:c.1913A>G ENSP00000454071.1:p.Asp638Gly
ENST00000559340.1:c.494A>G
NM_000527.4:c.1913A>G , LRG_274t1:c.1913A>G NP_000518.1:p.Asp638Gly
NM_001195798.1:c.1913A>G NP_001182727.1:p.Asp638Gly
NM_001195799.1:c.1790A>G NP_001182728.1:p.Asp597Gly
NM_001195800.1:c.1409A>G NP_001182729.1:p.Asp470Gly
NM_001195803.1:c.1532A>G NP_001182732.1:p.Asp511Gly
XM_011528010.1:c.1913A>G XP_011526312.1:p.Asp638Gly
XM_011528011.1:c.1532A>G XP_011526313.1:p.Asp511Gly
XR_244074.2:n.1923A>G
XM_011528010.2:c.1913A>G XP_011526312.1:p.Asp638Gly
XR_001753685.2:n.2030A>G
XR_001753686.2:n.1890A>G
NM_000527.5:c.1913A>G MANE Select NP_000518.1:p.Asp638Gly
NM_001195798.2:c.1913A>G NP_001182727.1:p.Asp638Gly
NM_001195799.2:c.1790A>G NP_001182728.1:p.Asp597Gly
NM_001195800.2:c.1409A>G NP_001182729.1:p.Asp470Gly
NM_001195803.2:c.1532A>G NP_001182732.1:p.Asp511Gly
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