Canonical Allele Identifier: CA030068
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251510
ClinVar RCV Id: RCV000237850 RCV004020954 RCV003456385
dbSNP Id: rs767618089
ExAC: 19:11218148 A / G
gnomAD v2: 19-11218148-A-G
gnomAD v4: 19-11107472-A-G
MyVariant Identifiers: chr19:g.11218148A>G (hg19) chr19:g.11107472A>G (hg38)
ERepo: CA030068/MONDO:0007750/013
PubMed: PMID:19318025 PMID:19446849 PMID:25545329
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107472A>G , CM000681.2:g.11107472A>G GRCh38
NC_000019.9:g.11218148A>G , CM000681.1:g.11218148A>G GRCh37
NC_000019.8:g.11079148A>G NCBI36
NG_009060.1:g.23092A>G , LRG_274:g.23092A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1156A>G ENSP00000252444.6:p.Arg386Gly
ENST00000559340.2:c.898A>G ENSP00000453696.2:p.Arg300Gly
ENST00000560467.2:c.898A>G ENSP00000453513.2:p.Arg300Gly
ENST00000558518.6:c.898A>G MANE Select ENSP00000454071.1:p.Arg300Gly
ENST00000252444.9:c.1152A>G
ENST00000455727.6:c.394A>G ENSP00000397829.2:p.Arg132Gly
ENST00000535915.5:c.775A>G ENSP00000440520.1:p.Arg259Gly
ENST00000545707.5:c.517A>G ENSP00000437639.1:p.Arg173Gly
ENST00000557933.5:c.898A>G ENSP00000453557.1:p.Arg300Gly
ENST00000558013.5:c.898A>G ENSP00000453346.1:p.Arg300Gly
ENST00000558518.5:c.898A>G ENSP00000454071.1:p.Arg300Gly
ENST00000558528.1:n.413A>G
ENST00000560467.1:c.498A>G
NM_000527.4:c.898A>G , LRG_274t1:c.898A>G NP_000518.1:p.Arg300Gly
NM_001195798.1:c.898A>G NP_001182727.1:p.Arg300Gly
NM_001195799.1:c.775A>G NP_001182728.1:p.Arg259Gly
NM_001195800.1:c.394A>G NP_001182729.1:p.Arg132Gly
NM_001195803.1:c.517A>G NP_001182732.1:p.Arg173Gly
XM_011528010.1:c.898A>G XP_011526312.1:p.Arg300Gly
XM_011528011.1:c.517A>G XP_011526313.1:p.Arg173Gly
XR_244074.2:n.1048A>G
XM_011528010.2:c.898A>G XP_011526312.1:p.Arg300Gly
XR_001753685.2:n.1015A>G
XR_001753686.2:n.1015A>G
NM_000527.5:c.898A>G MANE Select NP_000518.1:p.Arg300Gly
NM_001195798.2:c.898A>G NP_001182727.1:p.Arg300Gly
NM_001195799.2:c.775A>G NP_001182728.1:p.Arg259Gly
NM_001195800.2:c.394A>G NP_001182729.1:p.Arg132Gly
NM_001195803.2:c.517A>G NP_001182732.1:p.Arg173Gly
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