Canonical Allele Identifier: CA16602347
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375833
ClinVar RCV Id: RCV000417355 RCV001177575
dbSNP Id: rs1057519684
gnomAD v4: 19-11120507-A-G
MyVariant Identifiers: chr19:g.11231183A>G (hg19) chr19:g.11120507A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120507A>G , CM000681.2:g.11120507A>G GRCh38
NC_000019.9:g.11231183A>G , CM000681.1:g.11231183A>G GRCh37
NC_000019.8:g.11092183A>G NCBI36
NG_009060.1:g.36127A>G , LRG_274:g.36127A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2383A>G ENSP00000252444.6:p.Arg795Gly
ENST00000559340.2:c.*194A>G ENSP00000453696.2:n.*194A>G
ENST00000560467.2:c.2005A>G ENSP00000453513.2:p.Arg669Gly
ENST00000558518.6:c.2125A>G MANE Select ENSP00000454071.1:p.Arg709Gly
ENST00000252444.9:c.2379A>G
ENST00000455727.6:c.1621A>G ENSP00000397829.2:p.Arg541Gly
ENST00000535915.5:c.2002A>G ENSP00000440520.1:p.Arg668Gly
ENST00000545707.5:c.1606+274A>G ENSP00000437639.1:n.1606+274A>G
ENST00000557933.5:c.2125A>G ENSP00000453557.1:p.Arg709Gly
ENST00000558013.5:c.2125A>G ENSP00000453346.1:p.Arg709Gly
ENST00000558518.5:c.2125A>G ENSP00000454071.1:p.Arg709Gly
NM_000527.4:c.2125A>G , LRG_274t1:c.2125A>G NP_000518.1:p.Arg709Gly
NM_001195798.1:c.2125A>G NP_001182727.1:p.Arg709Gly
NM_001195799.1:c.2002A>G NP_001182728.1:p.Arg668Gly
NM_001195800.1:c.1621A>G NP_001182729.1:p.Arg541Gly
NM_001195803.1:c.1606+274A>G NP_001182732.1:n.1606+274A>G
XM_011528010.1:c.2125A>G XP_011526312.1:p.Arg709Gly
XM_011528011.1:c.1744A>G XP_011526313.1:p.Arg582Gly
XR_244074.2:n.2135A>G
XM_011528010.2:c.2125A>G XP_011526312.1:p.Arg709Gly
XR_001753685.2:n.2242A>G
XR_001753686.2:n.2102A>G
NM_000527.5:c.2125A>G MANE Select NP_000518.1:p.Arg709Gly
NM_001195798.2:c.2125A>G NP_001182727.1:p.Arg709Gly
NM_001195799.2:c.2002A>G NP_001182728.1:p.Arg668Gly
NM_001195800.2:c.1621A>G NP_001182729.1:p.Arg541Gly
NM_001195803.2:c.1606+274A>G NP_001182732.1:n.1606+274A>G
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