Canonical Allele Identifier: CA404086433
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224350G>A (hg19) chr19:g.11113674G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113674G>A , CM000681.2:g.11113674G>A GRCh38
NC_000019.9:g.11224350G>A , CM000681.1:g.11224350G>A GRCh37
NC_000019.8:g.11085350G>A NCBI36
NG_009060.1:g.29294G>A , LRG_274:g.29294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1756G>A ENSP00000252444.6:p.Val586Ile
ENST00000559340.2:c.1498G>A ENSP00000453696.2:p.Val500Ile
ENST00000560467.2:c.1378G>A ENSP00000453513.2:p.Val460Ile
ENST00000558518.6:c.1498G>A MANE Select ENSP00000454071.1:p.Val500Ile
ENST00000252444.9:c.1752G>A
ENST00000455727.6:c.994G>A ENSP00000397829.2:p.Val332Ile
ENST00000535915.5:c.1375G>A ENSP00000440520.1:p.Val459Ile
ENST00000545707.5:c.1117G>A ENSP00000437639.1:p.Val373Ile
ENST00000557933.5:c.1498G>A ENSP00000453557.1:p.Val500Ile
ENST00000558013.5:c.1498G>A ENSP00000453346.1:p.Val500Ile
ENST00000558518.5:c.1498G>A ENSP00000454071.1:p.Val500Ile
ENST00000559340.1:c.219G>A
NM_000527.4:c.1498G>A , LRG_274t1:c.1498G>A NP_000518.1:p.Val500Ile
NM_001195798.1:c.1498G>A NP_001182727.1:p.Val500Ile
NM_001195799.1:c.1375G>A NP_001182728.1:p.Val459Ile
NM_001195800.1:c.994G>A NP_001182729.1:p.Val332Ile
NM_001195803.1:c.1117G>A NP_001182732.1:p.Val373Ile
XM_011528010.1:c.1498G>A XP_011526312.1:p.Val500Ile
XM_011528011.1:c.1117G>A XP_011526313.1:p.Val373Ile
XR_244074.2:n.1648G>A
XM_011528010.2:c.1498G>A XP_011526312.1:p.Val500Ile
XR_001753685.2:n.1615G>A
XR_001753686.2:n.1615G>A
NM_000527.5:c.1498G>A MANE Select NP_000518.1:p.Val500Ile
NM_001195798.2:c.1498G>A NP_001182727.1:p.Val500Ile
NM_001195799.2:c.1375G>A NP_001182728.1:p.Val459Ile
NM_001195800.2:c.994G>A NP_001182729.1:p.Val332Ile
NM_001195803.2:c.1117G>A NP_001182732.1:p.Val373Ile
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