Canonical Allele Identifier: CA404083872
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2744449
ClinVar RCV Id: RCV003582748
MyVariant Identifiers: chr19:g.11222294A>G (hg19) chr19:g.11111618A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111618A>G , CM000681.2:g.11111618A>G GRCh38
NC_000019.9:g.11222294A>G , CM000681.1:g.11222294A>G GRCh37
NC_000019.8:g.11083294A>G NCBI36
NG_009060.1:g.27238A>G , LRG_274:g.27238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1423A>G ENSP00000252444.6:p.Thr475Ala
ENST00000559340.2:c.1165A>G ENSP00000453696.2:p.Thr389Ala
ENST00000560467.2:c.1045A>G ENSP00000453513.2:p.Thr349Ala
ENST00000558518.6:c.1165A>G MANE Select ENSP00000454071.1:p.Thr389Ala
ENST00000252444.9:c.1419A>G
ENST00000455727.6:c.661A>G ENSP00000397829.2:p.Thr221Ala
ENST00000535915.5:c.1042A>G ENSP00000440520.1:p.Thr348Ala
ENST00000545707.5:c.784A>G ENSP00000437639.1:p.Thr262Ala
ENST00000557933.5:c.1165A>G ENSP00000453557.1:p.Thr389Ala
ENST00000558013.5:c.1165A>G ENSP00000453346.1:p.Thr389Ala
ENST00000558518.5:c.1165A>G ENSP00000454071.1:p.Thr389Ala
ENST00000560173.1:n.164A>G
ENST00000560467.1:c.645A>G
NM_000527.4:c.1165A>G , LRG_274t1:c.1165A>G NP_000518.1:p.Thr389Ala
NM_001195798.1:c.1165A>G NP_001182727.1:p.Thr389Ala
NM_001195799.1:c.1042A>G NP_001182728.1:p.Thr348Ala
NM_001195800.1:c.661A>G NP_001182729.1:p.Thr221Ala
NM_001195803.1:c.784A>G NP_001182732.1:p.Thr262Ala
XM_011528010.1:c.1165A>G XP_011526312.1:p.Thr389Ala
XM_011528011.1:c.784A>G XP_011526313.1:p.Thr262Ala
XR_244074.2:n.1315A>G
XM_011528010.2:c.1165A>G XP_011526312.1:p.Thr389Ala
XR_001753685.2:n.1282A>G
XR_001753686.2:n.1282A>G
NM_000527.5:c.1165A>G MANE Select NP_000518.1:p.Thr389Ala
NM_001195798.2:c.1165A>G NP_001182727.1:p.Thr389Ala
NM_001195799.2:c.1042A>G NP_001182728.1:p.Thr348Ala
NM_001195800.2:c.661A>G NP_001182729.1:p.Thr221Ala
NM_001195803.2:c.784A>G NP_001182732.1:p.Thr262Ala
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