Canonical Allele Identifier: CA16602343
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375829
ClinVar RCV Id: RCV000417286
dbSNP Id: rs879255126
MyVariant Identifiers: chr19:g.11231114C>G (hg19) chr19:g.11120438C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120438C>G , CM000681.2:g.11120438C>G GRCh38
NC_000019.9:g.11231114C>G , CM000681.1:g.11231114C>G GRCh37
NC_000019.8:g.11092114C>G NCBI36
NG_009060.1:g.36058C>G , LRG_274:g.36058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2314C>G ENSP00000252444.6:p.Gln772Glu
ENST00000559340.2:c.*125C>G ENSP00000453696.2:n.*125C>G
ENST00000560467.2:c.1936C>G ENSP00000453513.2:p.Gln646Glu
ENST00000558518.6:c.2056C>G MANE Select ENSP00000454071.1:p.Gln686Glu
ENST00000252444.9:c.2310C>G
ENST00000455727.6:c.1552C>G ENSP00000397829.2:p.Gln518Glu
ENST00000535915.5:c.1933C>G ENSP00000440520.1:p.Gln645Glu
ENST00000545707.5:c.1606+205C>G ENSP00000437639.1:n.1606+205C>G
ENST00000557933.5:c.2056C>G ENSP00000453557.1:p.Gln686Glu
ENST00000558013.5:c.2056C>G ENSP00000453346.1:p.Gln686Glu
ENST00000558518.5:c.2056C>G ENSP00000454071.1:p.Gln686Glu
NM_000527.4:c.2056C>G , LRG_274t1:c.2056C>G NP_000518.1:p.Gln686Glu
NM_001195798.1:c.2056C>G NP_001182727.1:p.Gln686Glu
NM_001195799.1:c.1933C>G NP_001182728.1:p.Gln645Glu
NM_001195800.1:c.1552C>G NP_001182729.1:p.Gln518Glu
NM_001195803.1:c.1606+205C>G NP_001182732.1:n.1606+205C>G
XM_011528010.1:c.2056C>G XP_011526312.1:p.Gln686Glu
XM_011528011.1:c.1675C>G XP_011526313.1:p.Gln559Glu
XR_244074.2:n.2066C>G
XM_011528010.2:c.2056C>G XP_011526312.1:p.Gln686Glu
XR_001753685.2:n.2173C>G
XR_001753686.2:n.2033C>G
NM_000527.5:c.2056C>G MANE Select NP_000518.1:p.Gln686Glu
NM_001195798.2:c.2056C>G NP_001182727.1:p.Gln686Glu
NM_001195799.2:c.1933C>G NP_001182728.1:p.Gln645Glu
NM_001195800.2:c.1552C>G NP_001182729.1:p.Gln518Glu
NM_001195803.2:c.1606+205C>G NP_001182732.1:n.1606+205C>G
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