Canonical Allele Identifier: CA404094795
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070677
ClinVar RCV Id: RCV004013187
gnomAD v4: 19-11123191-G-A
MyVariant Identifiers: chr19:g.11233867G>A (hg19) chr19:g.11123191G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123191G>A , CM000681.2:g.11123191G>A GRCh38
NC_000019.9:g.11233867G>A , CM000681.1:g.11233867G>A GRCh37
NC_000019.8:g.11094867G>A NCBI36
NG_009060.1:g.38811G>A , LRG_274:g.38811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2416G>A ENSP00000252444.6:p.Ala806Thr
ENST00000559340.2:c.*227G>A ENSP00000453696.2:n.*227G>A
ENST00000560467.2:c.2038G>A ENSP00000453513.2:p.Ala680Thr
ENST00000558518.6:c.2158G>A MANE Select ENSP00000454071.1:p.Ala720Thr
ENST00000252444.9:c.2412G>A
ENST00000455727.6:c.1654G>A ENSP00000397829.2:p.Ala552Thr
ENST00000535915.5:c.2035G>A ENSP00000440520.1:p.Ala679Thr
ENST00000545707.5:c.1624G>A ENSP00000437639.1:p.Ala542Thr
ENST00000557933.5:c.2158G>A ENSP00000453557.1:p.Ala720Thr
ENST00000558013.5:c.2158G>A ENSP00000453346.1:p.Ala720Thr
ENST00000558518.5:c.2158G>A ENSP00000454071.1:p.Ala720Thr
NM_000527.4:c.2158G>A , LRG_274t1:c.2158G>A NP_000518.1:p.Ala720Thr
NM_001195798.1:c.2158G>A NP_001182727.1:p.Ala720Thr
NM_001195799.1:c.2035G>A NP_001182728.1:p.Ala679Thr
NM_001195800.1:c.1654G>A NP_001182729.1:p.Ala552Thr
NM_001195803.1:c.1624G>A NP_001182732.1:p.Ala542Thr
XM_011528010.1:c.2158G>A XP_011526312.1:p.Ala720Thr
XM_011528011.1:c.1777G>A XP_011526313.1:p.Ala593Thr
XR_244074.2:n.2168G>A
XM_011528010.2:c.2158G>A XP_011526312.1:p.Ala720Thr
XR_001753685.2:n.2492G>A
XR_001753686.2:n.2135G>A
NM_000527.5:c.2158G>A MANE Select NP_000518.1:p.Ala720Thr
NM_001195798.2:c.2158G>A NP_001182727.1:p.Ala720Thr
NM_001195799.2:c.2035G>A NP_001182728.1:p.Ala679Thr
NM_001195800.2:c.1654G>A NP_001182729.1:p.Ala552Thr
NM_001195803.2:c.1624G>A NP_001182732.1:p.Ala542Thr
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