Canonical Allele Identifier: CA404099882
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077689911
gnomAD v4: 19-11129659-A-G
MyVariant Identifiers: chr19:g.11240335A>G (hg19) chr19:g.11129659A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129659A>G , CM000681.2:g.11129659A>G GRCh38
NC_000019.9:g.11240335A>G , CM000681.1:g.11240335A>G GRCh37
NC_000019.8:g.11101335A>G NCBI36
NG_009060.1:g.45279A>G , LRG_274:g.45279A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2794A>G ENSP00000252444.6:p.Ser932Gly
ENST00000559340.2:c.*605A>G ENSP00000453696.2:n.*605A>G
ENST00000560467.2:c.2416A>G ENSP00000453513.2:p.Ser806Gly
ENST00000558518.6:c.2536A>G MANE Select ENSP00000454071.1:p.Ser846Gly
ENST00000252444.9:c.2790A>G
ENST00000455727.6:c.2032A>G ENSP00000397829.2:p.Ser678Gly
ENST00000535915.5:c.2413A>G ENSP00000440520.1:p.Ser805Gly
ENST00000545707.5:c.2002A>G ENSP00000437639.1:p.Ser668Gly
ENST00000557933.5:c.2598A>G ENSP00000453557.1:p.Thr866=
ENST00000558013.5:c.2536A>G ENSP00000453346.1:p.Ser846Gly
ENST00000558518.5:c.2536A>G ENSP00000454071.1:p.Ser846Gly
ENST00000560628.1:n.108+2005A>G
NM_000527.4:c.2536A>G , LRG_274t1:c.2536A>G NP_000518.1:p.Ser846Gly
NM_001195798.1:c.2536A>G NP_001182727.1:p.Ser846Gly
NM_001195799.1:c.2413A>G NP_001182728.1:p.Ser805Gly
NM_001195800.1:c.2032A>G NP_001182729.1:p.Ser678Gly
NM_001195803.1:c.2002A>G NP_001182732.1:p.Ser668Gly
XM_011528010.1:c.2458A>G XP_011526312.1:p.Ser820Gly
XM_011528011.1:c.2155A>G XP_011526313.1:p.Ser719Gly
XM_011528010.2:c.2458A>G XP_011526312.1:p.Ser820Gly
XR_001753685.2:n.2870A>G
XR_001753686.2:n.2513A>G
NM_000527.5:c.2536A>G MANE Select NP_000518.1:p.Ser846Gly
NM_001195798.2:c.2536A>G NP_001182727.1:p.Ser846Gly
NM_001195799.2:c.2413A>G NP_001182728.1:p.Ser805Gly
NM_001195800.2:c.2032A>G NP_001182729.1:p.Ser678Gly
NM_001195803.2:c.2002A>G NP_001182732.1:p.Ser668Gly
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