Canonical Allele Identifier: CA404079590
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11217271A>G (hg19) chr19:g.11106595A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106595A>G , CM000681.2:g.11106595A>G GRCh38
NC_000019.9:g.11217271A>G , CM000681.1:g.11217271A>G GRCh37
NC_000019.8:g.11078271A>G NCBI36
NG_009060.1:g.22215A>G , LRG_274:g.22215A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.983A>G ENSP00000252444.6:p.Gln328Arg
ENST00000559340.2:c.725A>G ENSP00000453696.2:p.Gln242Arg
ENST00000560467.2:c.725A>G ENSP00000453513.2:p.Gln242Arg
ENST00000558518.6:c.725A>G MANE Select ENSP00000454071.1:p.Gln242Arg
ENST00000252444.9:c.979A>G
ENST00000455727.6:c.314-797A>G ENSP00000397829.2:n.314-797A>G
ENST00000535915.5:c.602A>G ENSP00000440520.1:p.Gln201Arg
ENST00000545707.5:c.344A>G ENSP00000437639.1:p.Gln115Arg
ENST00000557933.5:c.725A>G ENSP00000453557.1:p.Gln242Arg
ENST00000558013.5:c.725A>G ENSP00000453346.1:p.Gln242Arg
ENST00000558518.5:c.725A>G ENSP00000454071.1:p.Gln242Arg
ENST00000558528.1:n.240A>G
ENST00000560467.1:c.325A>G
NM_000527.4:c.725A>G , LRG_274t1:c.725A>G NP_000518.1:p.Gln242Arg
NM_001195798.1:c.725A>G NP_001182727.1:p.Gln242Arg
NM_001195799.1:c.602A>G NP_001182728.1:p.Gln201Arg
NM_001195800.1:c.314-797A>G NP_001182729.1:n.314-797A>G
NM_001195803.1:c.344A>G NP_001182732.1:p.Gln115Arg
XM_011528010.1:c.725A>G XP_011526312.1:p.Gln242Arg
XM_011528011.1:c.344A>G XP_011526313.1:p.Gln115Arg
XR_244074.2:n.875A>G
XM_011528010.2:c.725A>G XP_011526312.1:p.Gln242Arg
XR_001753685.2:n.842A>G
XR_001753686.2:n.842A>G
NM_000527.5:c.725A>G MANE Select NP_000518.1:p.Gln242Arg
NM_001195798.2:c.725A>G NP_001182727.1:p.Gln242Arg
NM_001195799.2:c.602A>G NP_001182728.1:p.Gln201Arg
NM_001195800.2:c.314-797A>G NP_001182729.1:n.314-797A>G
NM_001195803.2:c.344A>G NP_001182732.1:p.Gln115Arg
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