Canonical Allele Identifier: CA404093980
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440680
ClinVar RCV Id: RCV000508840
dbSNP Id: rs879255144
MyVariant Identifiers: chr19:g.11231189T>G (hg19) chr19:g.11120513T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120513T>G , CM000681.2:g.11120513T>G GRCh38
NC_000019.9:g.11231189T>G , CM000681.1:g.11231189T>G GRCh37
NC_000019.8:g.11092189T>G NCBI36
NG_009060.1:g.36133T>G , LRG_274:g.36133T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2389T>G ENSP00000252444.6:p.Cys797Gly
ENST00000559340.2:c.*200T>G ENSP00000453696.2:n.*200T>G
ENST00000560467.2:c.2011T>G ENSP00000453513.2:p.Cys671Gly
ENST00000558518.6:c.2131T>G MANE Select ENSP00000454071.1:p.Cys711Gly
ENST00000252444.9:c.2385T>G
ENST00000455727.6:c.1627T>G ENSP00000397829.2:p.Cys543Gly
ENST00000535915.5:c.2008T>G ENSP00000440520.1:p.Cys670Gly
ENST00000545707.5:c.1606+280T>G ENSP00000437639.1:n.1606+280T>G
ENST00000557933.5:c.2131T>G ENSP00000453557.1:p.Cys711Gly
ENST00000558013.5:c.2131T>G ENSP00000453346.1:p.Cys711Gly
ENST00000558518.5:c.2131T>G ENSP00000454071.1:p.Cys711Gly
NM_000527.4:c.2131T>G , LRG_274t1:c.2131T>G NP_000518.1:p.Cys711Gly
NM_001195798.1:c.2131T>G NP_001182727.1:p.Cys711Gly
NM_001195799.1:c.2008T>G NP_001182728.1:p.Cys670Gly
NM_001195800.1:c.1627T>G NP_001182729.1:p.Cys543Gly
NM_001195803.1:c.1606+280T>G NP_001182732.1:n.1606+280T>G
XM_011528010.1:c.2131T>G XP_011526312.1:p.Cys711Gly
XM_011528011.1:c.1750T>G XP_011526313.1:p.Cys584Gly
XR_244074.2:n.2141T>G
XM_011528010.2:c.2131T>G XP_011526312.1:p.Cys711Gly
XR_001753685.2:n.2248T>G
XR_001753686.2:n.2108T>G
NM_000527.5:c.2131T>G MANE Select NP_000518.1:p.Cys711Gly
NM_001195798.2:c.2131T>G NP_001182727.1:p.Cys711Gly
NM_001195799.2:c.2008T>G NP_001182728.1:p.Cys670Gly
NM_001195800.2:c.1627T>G NP_001182729.1:p.Cys543Gly
NM_001195803.2:c.1606+280T>G NP_001182732.1:n.1606+280T>G
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