Canonical Allele Identifier: CA404097742
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11129451-C-A
MyVariant Identifiers: chr19:g.11240127C>A (hg19) chr19:g.11129451C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129451C>A , CM000681.2:g.11129451C>A GRCh38
NC_000019.9:g.11240127C>A , CM000681.1:g.11240127C>A GRCh37
NC_000019.8:g.11101127C>A NCBI36
NG_009060.1:g.45071C>A , LRG_274:g.45071C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-62C>A ENSP00000252444.6:n.2648-62C>A
ENST00000559340.2:c.*459-62C>A ENSP00000453696.2:n.*459-62C>A
ENST00000560467.2:c.2270-62C>A ENSP00000453513.2:n.2270-62C>A
ENST00000558518.6:c.2390-62C>A MANE Select ENSP00000454071.1:n.2390-62C>A
ENST00000252444.9:c.2644-62C>A
ENST00000455727.6:c.1886-62C>A ENSP00000397829.2:n.1886-62C>A
ENST00000535915.5:c.2267-62C>A ENSP00000440520.1:n.2267-62C>A
ENST00000545707.5:c.1856-62C>A ENSP00000437639.1:n.1856-62C>A
ENST00000557933.5:c.2390C>A ENSP00000453557.1:p.Ala797Asp
ENST00000558013.5:c.2390-62C>A ENSP00000453346.1:n.2390-62C>A
ENST00000558518.5:c.2390-62C>A ENSP00000454071.1:n.2390-62C>A
ENST00000560628.1:n.108+1797C>A
NM_000527.4:c.2390-62C>A , LRG_274t1:c.2390-62C>A NP_000518.1:n.2390-62C>A
NM_001195798.1:c.2390-62C>A NP_001182727.1:n.2390-62C>A
NM_001195799.1:c.2267-62C>A NP_001182728.1:n.2267-62C>A
NM_001195800.1:c.1886-62C>A NP_001182729.1:n.1886-62C>A
NM_001195803.1:c.1856-62C>A NP_001182732.1:n.1856-62C>A
XM_011528010.1:c.2312-62C>A XP_011526312.1:n.2312-62C>A
XM_011528011.1:c.2009-62C>A XP_011526313.1:n.2009-62C>A
XR_244074.2:n.2400-62C>A
XM_011528010.2:c.2312-62C>A XP_011526312.1:n.2312-62C>A
XR_001753685.2:n.2724-62C>A
XR_001753686.2:n.2367-62C>A
NM_000527.5:c.2390-62C>A MANE Select NP_000518.1:n.2390-62C>A
NM_001195798.2:c.2390-62C>A NP_001182727.1:n.2390-62C>A
NM_001195799.2:c.2267-62C>A NP_001182728.1:n.2267-62C>A
NM_001195800.2:c.1886-62C>A NP_001182729.1:n.1886-62C>A
NM_001195803.2:c.1856-62C>A NP_001182732.1:n.1856-62C>A
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