Canonical Allele Identifier: CA404093943
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11231169T>G (hg19) chr19:g.11120493T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120493T>G , CM000681.2:g.11120493T>G GRCh38
NC_000019.9:g.11231169T>G , CM000681.1:g.11231169T>G GRCh37
NC_000019.8:g.11092169T>G NCBI36
NG_009060.1:g.36113T>G , LRG_274:g.36113T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2369T>G ENSP00000252444.6:p.Leu790Arg
ENST00000559340.2:c.*180T>G ENSP00000453696.2:n.*180T>G
ENST00000560467.2:c.1991T>G ENSP00000453513.2:p.Leu664Arg
ENST00000558518.6:c.2111T>G MANE Select ENSP00000454071.1:p.Leu704Arg
ENST00000252444.9:c.2365T>G
ENST00000455727.6:c.1607T>G ENSP00000397829.2:p.Leu536Arg
ENST00000535915.5:c.1988T>G ENSP00000440520.1:p.Leu663Arg
ENST00000545707.5:c.1606+260T>G ENSP00000437639.1:n.1606+260T>G
ENST00000557933.5:c.2111T>G ENSP00000453557.1:p.Leu704Arg
ENST00000558013.5:c.2111T>G ENSP00000453346.1:p.Leu704Arg
ENST00000558518.5:c.2111T>G ENSP00000454071.1:p.Leu704Arg
NM_000527.4:c.2111T>G , LRG_274t1:c.2111T>G NP_000518.1:p.Leu704Arg
NM_001195798.1:c.2111T>G NP_001182727.1:p.Leu704Arg
NM_001195799.1:c.1988T>G NP_001182728.1:p.Leu663Arg
NM_001195800.1:c.1607T>G NP_001182729.1:p.Leu536Arg
NM_001195803.1:c.1606+260T>G NP_001182732.1:n.1606+260T>G
XM_011528010.1:c.2111T>G XP_011526312.1:p.Leu704Arg
XM_011528011.1:c.1730T>G XP_011526313.1:p.Leu577Arg
XR_244074.2:n.2121T>G
XM_011528010.2:c.2111T>G XP_011526312.1:p.Leu704Arg
XR_001753685.2:n.2228T>G
XR_001753686.2:n.2088T>G
NM_000527.5:c.2111T>G MANE Select NP_000518.1:p.Leu704Arg
NM_001195798.2:c.2111T>G NP_001182727.1:p.Leu704Arg
NM_001195799.2:c.1988T>G NP_001182728.1:p.Leu663Arg
NM_001195800.2:c.1607T>G NP_001182729.1:p.Leu536Arg
NM_001195803.2:c.1606+260T>G NP_001182732.1:n.1606+260T>G
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