Canonical Allele Identifier: CA404098622
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240223T>G (hg19) chr19:g.11129547T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129547T>G , CM000681.2:g.11129547T>G GRCh38
NC_000019.9:g.11240223T>G , CM000681.1:g.11240223T>G GRCh37
NC_000019.8:g.11101223T>G NCBI36
NG_009060.1:g.45167T>G , LRG_274:g.45167T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2682T>G ENSP00000252444.6:p.Leu894=
ENST00000559340.2:c.*493T>G ENSP00000453696.2:n.*493T>G
ENST00000560467.2:c.2304T>G ENSP00000453513.2:p.Leu768=
ENST00000558518.6:c.2424T>G MANE Select ENSP00000454071.1:p.Leu808=
ENST00000252444.9:c.2678T>G
ENST00000455727.6:c.1920T>G ENSP00000397829.2:p.Leu640=
ENST00000535915.5:c.2301T>G ENSP00000440520.1:p.Leu767=
ENST00000545707.5:c.1890T>G ENSP00000437639.1:p.Leu630=
ENST00000557933.5:c.2486T>G ENSP00000453557.1:p.Phe829Cys
ENST00000558013.5:c.2424T>G ENSP00000453346.1:p.Leu808=
ENST00000558518.5:c.2424T>G ENSP00000454071.1:p.Leu808=
ENST00000560628.1:n.108+1893T>G
NM_000527.4:c.2424T>G , LRG_274t1:c.2424T>G NP_000518.1:p.Leu808=
NM_001195798.1:c.2424T>G NP_001182727.1:p.Leu808=
NM_001195799.1:c.2301T>G NP_001182728.1:p.Leu767=
NM_001195800.1:c.1920T>G NP_001182729.1:p.Leu640=
NM_001195803.1:c.1890T>G NP_001182732.1:p.Leu630=
XM_011528010.1:c.2346T>G XP_011526312.1:p.Leu782=
XM_011528011.1:c.2043T>G XP_011526313.1:p.Leu681=
XR_244074.2:n.2434T>G
XM_011528010.2:c.2346T>G XP_011526312.1:p.Leu782=
XR_001753685.2:n.2758T>G
XR_001753686.2:n.2401T>G
NM_000527.5:c.2424T>G MANE Select NP_000518.1:p.Leu808=
NM_001195798.2:c.2424T>G NP_001182727.1:p.Leu808=
NM_001195799.2:c.2301T>G NP_001182728.1:p.Leu767=
NM_001195800.2:c.1920T>G NP_001182729.1:p.Leu640=
NM_001195803.2:c.1890T>G NP_001182732.1:p.Leu630=
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