Canonical Allele Identifier: CA404098554
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240217C>G (hg19) chr19:g.11129541C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129541C>G , CM000681.2:g.11129541C>G GRCh38
NC_000019.9:g.11240217C>G , CM000681.1:g.11240217C>G GRCh37
NC_000019.8:g.11101217C>G NCBI36
NG_009060.1:g.45161C>G , LRG_274:g.45161C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2676C>G ENSP00000252444.6:p.Val892=
ENST00000559340.2:c.*487C>G ENSP00000453696.2:n.*487C>G
ENST00000560467.2:c.2298C>G ENSP00000453513.2:p.Val766=
ENST00000558518.6:c.2418C>G MANE Select ENSP00000454071.1:p.Val806=
ENST00000252444.9:c.2672C>G
ENST00000455727.6:c.1914C>G ENSP00000397829.2:p.Val638=
ENST00000535915.5:c.2295C>G ENSP00000440520.1:p.Val765=
ENST00000545707.5:c.1884C>G ENSP00000437639.1:p.Val628=
ENST00000557933.5:c.2480C>G ENSP00000453557.1:p.Ser827Cys
ENST00000558013.5:c.2418C>G ENSP00000453346.1:p.Val806=
ENST00000558518.5:c.2418C>G ENSP00000454071.1:p.Val806=
ENST00000560628.1:n.108+1887C>G
NM_000527.4:c.2418C>G , LRG_274t1:c.2418C>G NP_000518.1:p.Val806=
NM_001195798.1:c.2418C>G NP_001182727.1:p.Val806=
NM_001195799.1:c.2295C>G NP_001182728.1:p.Val765=
NM_001195800.1:c.1914C>G NP_001182729.1:p.Val638=
NM_001195803.1:c.1884C>G NP_001182732.1:p.Val628=
XM_011528010.1:c.2340C>G XP_011526312.1:p.Val780=
XM_011528011.1:c.2037C>G XP_011526313.1:p.Val679=
XR_244074.2:n.2428C>G
XM_011528010.2:c.2340C>G XP_011526312.1:p.Val780=
XR_001753685.2:n.2752C>G
XR_001753686.2:n.2395C>G
NM_000527.5:c.2418C>G MANE Select NP_000518.1:p.Val806=
NM_001195798.2:c.2418C>G NP_001182727.1:p.Val806=
NM_001195799.2:c.2295C>G NP_001182728.1:p.Val765=
NM_001195800.2:c.1914C>G NP_001182729.1:p.Val638=
NM_001195803.2:c.1884C>G NP_001182732.1:p.Val628=
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