Canonical Allele Identifier: CA404075813
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440556
ClinVar RCV Id: RCV000508944
dbSNP Id: rs766709484
MyVariant Identifiers: chr19:g.11213449C>G (hg19) chr19:g.11102773C>G (hg38)
ERepo: CA404075813/MONDO:0007750/013
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102773C>G , CM000681.2:g.11102773C>G GRCh38
NC_000019.9:g.11213449C>G , CM000681.1:g.11213449C>G GRCh37
NC_000019.8:g.11074449C>G NCBI36
NG_009060.1:g.18393C>G , LRG_274:g.18393C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.558C>G ENSP00000252444.6:p.Asp186Glu
ENST00000559340.2:c.300C>G ENSP00000453696.2:p.Asp100Glu
ENST00000560467.2:c.300C>G ENSP00000453513.2:p.Asp100Glu
ENST00000558518.6:c.300C>G MANE Select ENSP00000454071.1:p.Asp100Glu
ENST00000252444.9:c.554C>G
ENST00000455727.6:c.300C>G ENSP00000397829.2:p.Asp100Glu
ENST00000535915.5:c.190+2428C>G ENSP00000440520.1:n.190+2428C>G
ENST00000545707.5:c.300C>G ENSP00000437639.1:p.Asp100Glu
ENST00000557933.5:c.300C>G ENSP00000453557.1:p.Asp100Glu
ENST00000557958.1:n.386C>G
ENST00000558013.5:c.300C>G ENSP00000453346.1:p.Asp100Glu
ENST00000558518.5:c.300C>G ENSP00000454071.1:p.Asp100Glu
NM_000527.4:c.300C>G , LRG_274t1:c.300C>G NP_000518.1:p.Asp100Glu
NM_001195798.1:c.300C>G NP_001182727.1:p.Asp100Glu
NM_001195799.1:c.190+2428C>G NP_001182728.1:n.190+2428C>G
NM_001195800.1:c.300C>G NP_001182729.1:p.Asp100Glu
NM_001195803.1:c.300C>G NP_001182732.1:p.Asp100Glu
XM_011528010.1:c.300C>G XP_011526312.1:p.Asp100Glu
XM_011528011.1:c.300C>G XP_011526313.1:p.Asp100Glu
XR_244074.2:n.450C>G
XM_011528010.2:c.300C>G XP_011526312.1:p.Asp100Glu
XR_001753685.2:n.417C>G
XR_001753686.2:n.417C>G
NM_000527.5:c.300C>G MANE Select NP_000518.1:p.Asp100Glu
NM_001195798.2:c.300C>G NP_001182727.1:p.Asp100Glu
NM_001195799.2:c.190+2428C>G NP_001182728.1:n.190+2428C>G
NM_001195800.2:c.300C>G NP_001182729.1:p.Asp100Glu
NM_001195803.2:c.300C>G NP_001182732.1:p.Asp100Glu
Search 100 bp 5'
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