Canonical Allele Identifier: CA404079688
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11217285A>T (hg19) chr19:g.11106609A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106609A>T , CM000681.2:g.11106609A>T GRCh38
NC_000019.9:g.11217285A>T , CM000681.1:g.11217285A>T GRCh37
NC_000019.8:g.11078285A>T NCBI36
NG_009060.1:g.22229A>T , LRG_274:g.22229A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.997A>T ENSP00000252444.6:p.Asn333Tyr
ENST00000559340.2:c.739A>T ENSP00000453696.2:p.Asn247Tyr
ENST00000560467.2:c.739A>T ENSP00000453513.2:p.Asn247Tyr
ENST00000558518.6:c.739A>T MANE Select ENSP00000454071.1:p.Asn247Tyr
ENST00000252444.9:c.993A>T
ENST00000455727.6:c.314-783A>T ENSP00000397829.2:n.314-783A>T
ENST00000535915.5:c.616A>T ENSP00000440520.1:p.Asn206Tyr
ENST00000545707.5:c.358A>T ENSP00000437639.1:p.Asn120Tyr
ENST00000557933.5:c.739A>T ENSP00000453557.1:p.Asn247Tyr
ENST00000558013.5:c.739A>T ENSP00000453346.1:p.Asn247Tyr
ENST00000558518.5:c.739A>T ENSP00000454071.1:p.Asn247Tyr
ENST00000558528.1:n.254A>T
ENST00000560467.1:c.339A>T
NM_000527.4:c.739A>T , LRG_274t1:c.739A>T NP_000518.1:p.Asn247Tyr
NM_001195798.1:c.739A>T NP_001182727.1:p.Asn247Tyr
NM_001195799.1:c.616A>T NP_001182728.1:p.Asn206Tyr
NM_001195800.1:c.314-783A>T NP_001182729.1:n.314-783A>T
NM_001195803.1:c.358A>T NP_001182732.1:p.Asn120Tyr
XM_011528010.1:c.739A>T XP_011526312.1:p.Asn247Tyr
XM_011528011.1:c.358A>T XP_011526313.1:p.Asn120Tyr
XR_244074.2:n.889A>T
XM_011528010.2:c.739A>T XP_011526312.1:p.Asn247Tyr
XR_001753685.2:n.856A>T
XR_001753686.2:n.856A>T
NM_000527.5:c.739A>T MANE Select NP_000518.1:p.Asn247Tyr
NM_001195798.2:c.739A>T NP_001182727.1:p.Asn247Tyr
NM_001195799.2:c.616A>T NP_001182728.1:p.Asn206Tyr
NM_001195800.2:c.314-783A>T NP_001182729.1:n.314-783A>T
NM_001195803.2:c.358A>T NP_001182732.1:p.Asn120Tyr
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