Canonical Allele Identifier: CA505743385
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230803C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120127C>G , CM000681.2:g.11120127C>G GRCh38
NC_000019.9:g.11230803C>G , CM000681.1:g.11230803C>G GRCh37
NC_000019.8:g.11091803C>G NCBI36
NG_009060.1:g.35747C>G , LRG_274:g.35747C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2139C>G ENSP00000252444.6:p.Ala713=
ENST00000559340.2:c.1741C>G ENSP00000453696.2:p.His581Asp
ENST00000560467.2:c.1761C>G ENSP00000453513.2:p.Ala587=
ENST00000558518.6:c.1881C>G MANE Select ENSP00000454071.1:p.Ala627=
ENST00000252444.9:c.2135C>G
ENST00000455727.6:c.1377C>G ENSP00000397829.2:p.Ala459=
ENST00000535915.5:c.1758C>G ENSP00000440520.1:p.Ala586=
ENST00000545707.5:c.1500C>G ENSP00000437639.1:p.Ala500=
ENST00000557933.5:c.1881C>G ENSP00000453557.1:p.Ala627=
ENST00000558013.5:c.1881C>G ENSP00000453346.1:p.Ala627=
ENST00000558518.5:c.1881C>G ENSP00000454071.1:p.Ala627=
ENST00000559340.1:c.462C>G
NM_000527.4:c.1881C>G , LRG_274t1:c.1881C>G NP_000518.1:p.Ala627=
NM_001195798.1:c.1881C>G NP_001182727.1:p.Ala627=
NM_001195799.1:c.1758C>G NP_001182728.1:p.Ala586=
NM_001195800.1:c.1377C>G NP_001182729.1:p.Ala459=
NM_001195803.1:c.1500C>G NP_001182732.1:p.Ala500=
XM_011528010.1:c.1881C>G XP_011526312.1:p.Ala627=
XM_011528011.1:c.1500C>G XP_011526313.1:p.Ala500=
XR_244074.2:n.1891C>G
XM_011528010.2:c.1881C>G XP_011526312.1:p.Ala627=
XR_001753685.2:n.1998C>G
XR_001753686.2:n.1858C>G
NM_000527.5:c.1881C>G MANE Select NP_000518.1:p.Ala627=
NM_001195798.2:c.1881C>G NP_001182727.1:p.Ala627=
NM_001195799.2:c.1758C>G NP_001182728.1:p.Ala586=
NM_001195800.2:c.1377C>G NP_001182729.1:p.Ala459=
NM_001195803.2:c.1500C>G NP_001182732.1:p.Ala500=
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