Canonical Allele Identifier: CA040890
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs760910475
ExAC: 19:11240303 A / C
gnomAD v2: 19-11240303-A-C
gnomAD v4: 19-11129627-A-C
MyVariant Identifiers: chr19:g.11240303A>C (hg19) chr19:g.11129627A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129627A>C , CM000681.2:g.11129627A>C GRCh38
NC_000019.9:g.11240303A>C , CM000681.1:g.11240303A>C GRCh37
NC_000019.8:g.11101303A>C NCBI36
NG_009060.1:g.45247A>C , LRG_274:g.45247A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2762A>C ENSP00000252444.6:p.Glu921Ala
ENST00000559340.2:c.*573A>C ENSP00000453696.2:n.*573A>C
ENST00000560467.2:c.2384A>C ENSP00000453513.2:p.Glu795Ala
ENST00000558518.6:c.2504A>C MANE Select ENSP00000454071.1:p.Glu835Ala
ENST00000252444.9:c.2758A>C
ENST00000455727.6:c.2000A>C ENSP00000397829.2:p.Glu667Ala
ENST00000535915.5:c.2381A>C ENSP00000440520.1:p.Glu794Ala
ENST00000545707.5:c.1970A>C ENSP00000437639.1:p.Glu657Ala
ENST00000557933.5:c.2566A>C ENSP00000453557.1:p.Arg856=
ENST00000558013.5:c.2504A>C ENSP00000453346.1:p.Glu835Ala
ENST00000558518.5:c.2504A>C ENSP00000454071.1:p.Glu835Ala
ENST00000560628.1:n.108+1973A>C
NM_000527.4:c.2504A>C , LRG_274t1:c.2504A>C NP_000518.1:p.Glu835Ala
NM_001195798.1:c.2504A>C NP_001182727.1:p.Glu835Ala
NM_001195799.1:c.2381A>C NP_001182728.1:p.Glu794Ala
NM_001195800.1:c.2000A>C NP_001182729.1:p.Glu667Ala
NM_001195803.1:c.1970A>C NP_001182732.1:p.Glu657Ala
XM_011528010.1:c.2426A>C XP_011526312.1:p.Glu809Ala
XM_011528011.1:c.2123A>C XP_011526313.1:p.Glu708Ala
XM_011528010.2:c.2426A>C XP_011526312.1:p.Glu809Ala
XR_001753685.2:n.2838A>C
XR_001753686.2:n.2481A>C
NM_000527.5:c.2504A>C MANE Select NP_000518.1:p.Glu835Ala
NM_001195798.2:c.2504A>C NP_001182727.1:p.Glu835Ala
NM_001195799.2:c.2381A>C NP_001182728.1:p.Glu794Ala
NM_001195800.2:c.2000A>C NP_001182729.1:p.Glu667Ala
NM_001195803.2:c.1970A>C NP_001182732.1:p.Glu657Ala
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