Canonical Allele Identifier: CA404093848
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 956013
ClinVar RCV Id: RCV001228745
dbSNP Id: rs1600744007
MyVariant Identifiers: chr19:g.11231141A>G (hg19) chr19:g.11120465A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120465A>G , CM000681.2:g.11120465A>G GRCh38
NC_000019.9:g.11231141A>G , CM000681.1:g.11231141A>G GRCh37
NC_000019.8:g.11092141A>G NCBI36
NG_009060.1:g.36085A>G , LRG_274:g.36085A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2341A>G ENSP00000252444.6:p.Thr781Ala
ENST00000559340.2:c.*152A>G ENSP00000453696.2:n.*152A>G
ENST00000560467.2:c.1963A>G ENSP00000453513.2:p.Thr655Ala
ENST00000558518.6:c.2083A>G MANE Select ENSP00000454071.1:p.Thr695Ala
ENST00000252444.9:c.2337A>G
ENST00000455727.6:c.1579A>G ENSP00000397829.2:p.Thr527Ala
ENST00000535915.5:c.1960A>G ENSP00000440520.1:p.Thr654Ala
ENST00000545707.5:c.1606+232A>G ENSP00000437639.1:n.1606+232A>G
ENST00000557933.5:c.2083A>G ENSP00000453557.1:p.Thr695Ala
ENST00000558013.5:c.2083A>G ENSP00000453346.1:p.Thr695Ala
ENST00000558518.5:c.2083A>G ENSP00000454071.1:p.Thr695Ala
NM_000527.4:c.2083A>G , LRG_274t1:c.2083A>G NP_000518.1:p.Thr695Ala
NM_001195798.1:c.2083A>G NP_001182727.1:p.Thr695Ala
NM_001195799.1:c.1960A>G NP_001182728.1:p.Thr654Ala
NM_001195800.1:c.1579A>G NP_001182729.1:p.Thr527Ala
NM_001195803.1:c.1606+232A>G NP_001182732.1:n.1606+232A>G
XM_011528010.1:c.2083A>G XP_011526312.1:p.Thr695Ala
XM_011528011.1:c.1702A>G XP_011526313.1:p.Thr568Ala
XR_244074.2:n.2093A>G
XM_011528010.2:c.2083A>G XP_011526312.1:p.Thr695Ala
XR_001753685.2:n.2200A>G
XR_001753686.2:n.2060A>G
NM_000527.5:c.2083A>G MANE Select NP_000518.1:p.Thr695Ala
NM_001195798.2:c.2083A>G NP_001182727.1:p.Thr695Ala
NM_001195799.2:c.1960A>G NP_001182728.1:p.Thr654Ala
NM_001195800.2:c.1579A>G NP_001182729.1:p.Thr527Ala
NM_001195803.2:c.1606+232A>G NP_001182732.1:n.1606+232A>G
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