Canonical Allele Identifier: CA10585171
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251498
ClinVar RCV Id: RCV000237605 RCV003456384
dbSNP Id: rs879254703
MyVariant Identifiers: chr19:g.11218130A>G (hg19) chr19:g.11107454A>G (hg38)
PubMed: PMID:10735632
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107454A>G , CM000681.2:g.11107454A>G GRCh38
NC_000019.9:g.11218130A>G , CM000681.1:g.11218130A>G GRCh37
NC_000019.8:g.11079130A>G NCBI36
NG_009060.1:g.23074A>G , LRG_274:g.23074A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1138A>G ENSP00000252444.6:p.Lys380Glu
ENST00000559340.2:c.880A>G ENSP00000453696.2:p.Lys294Glu
ENST00000560467.2:c.880A>G ENSP00000453513.2:p.Lys294Glu
ENST00000558518.6:c.880A>G MANE Select ENSP00000454071.1:p.Lys294Glu
ENST00000252444.9:c.1134A>G
ENST00000455727.6:c.376A>G ENSP00000397829.2:p.Lys126Glu
ENST00000535915.5:c.757A>G ENSP00000440520.1:p.Lys253Glu
ENST00000545707.5:c.499A>G ENSP00000437639.1:p.Lys167Glu
ENST00000557933.5:c.880A>G ENSP00000453557.1:p.Lys294Glu
ENST00000558013.5:c.880A>G ENSP00000453346.1:p.Lys294Glu
ENST00000558518.5:c.880A>G ENSP00000454071.1:p.Lys294Glu
ENST00000558528.1:n.395A>G
ENST00000560467.1:c.480A>G
NM_000527.4:c.880A>G , LRG_274t1:c.880A>G NP_000518.1:p.Lys294Glu
NM_001195798.1:c.880A>G NP_001182727.1:p.Lys294Glu
NM_001195799.1:c.757A>G NP_001182728.1:p.Lys253Glu
NM_001195800.1:c.376A>G NP_001182729.1:p.Lys126Glu
NM_001195803.1:c.499A>G NP_001182732.1:p.Lys167Glu
XM_011528010.1:c.880A>G XP_011526312.1:p.Lys294Glu
XM_011528011.1:c.499A>G XP_011526313.1:p.Lys167Glu
XR_244074.2:n.1030A>G
XM_011528010.2:c.880A>G XP_011526312.1:p.Lys294Glu
XR_001753685.2:n.997A>G
XR_001753686.2:n.997A>G
NM_000527.5:c.880A>G MANE Select NP_000518.1:p.Lys294Glu
NM_001195798.2:c.880A>G NP_001182727.1:p.Lys294Glu
NM_001195799.2:c.757A>G NP_001182728.1:p.Lys253Glu
NM_001195800.2:c.376A>G NP_001182729.1:p.Lys126Glu
NM_001195803.2:c.499A>G NP_001182732.1:p.Lys167Glu
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