Canonical Allele Identifier: CA404076482
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440573
ClinVar RCV Id: RCV000508834
dbSNP Id: rs879254529
MyVariant Identifiers: chr19:g.11216027G>C (hg19) chr19:g.11105351G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105351G>C , CM000681.2:g.11105351G>C GRCh38
NC_000019.9:g.11216027G>C , CM000681.1:g.11216027G>C GRCh37
NC_000019.8:g.11077027G>C NCBI36
NG_009060.1:g.20971G>C , LRG_274:g.20971G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.703G>C ENSP00000252444.6:p.Gly235Arg
ENST00000559340.2:c.445G>C ENSP00000453696.2:p.Gly149Arg
ENST00000560467.2:c.445G>C ENSP00000453513.2:p.Gly149Arg
ENST00000558518.6:c.445G>C MANE Select ENSP00000454071.1:p.Gly149Arg
ENST00000252444.9:c.699G>C
ENST00000455727.6:c.314-2041G>C ENSP00000397829.2:n.314-2041G>C
ENST00000535915.5:c.322G>C ENSP00000440520.1:p.Gly108Arg
ENST00000545707.5:c.314-1214G>C ENSP00000437639.1:n.314-1214G>C
ENST00000557933.5:c.445G>C ENSP00000453557.1:p.Gly149Arg
ENST00000558013.5:c.445G>C ENSP00000453346.1:p.Gly149Arg
ENST00000558518.5:c.445G>C ENSP00000454071.1:p.Gly149Arg
ENST00000560467.1:c.45G>C
NM_000527.4:c.445G>C , LRG_274t1:c.445G>C NP_000518.1:p.Gly149Arg
NM_001195798.1:c.445G>C NP_001182727.1:p.Gly149Arg
NM_001195799.1:c.322G>C NP_001182728.1:p.Gly108Arg
NM_001195800.1:c.314-2041G>C NP_001182729.1:n.314-2041G>C
NM_001195803.1:c.314-1214G>C NP_001182732.1:n.314-1214G>C
XM_011528010.1:c.445G>C XP_011526312.1:p.Gly149Arg
XM_011528011.1:c.314-1214G>C XP_011526313.1:n.314-1214G>C
XR_244074.2:n.595G>C
XM_011528010.2:c.445G>C XP_011526312.1:p.Gly149Arg
XR_001753685.2:n.562G>C
XR_001753686.2:n.562G>C
NM_000527.5:c.445G>C MANE Select NP_000518.1:p.Gly149Arg
NM_001195798.2:c.445G>C NP_001182727.1:p.Gly149Arg
NM_001195799.2:c.322G>C NP_001182728.1:p.Gly108Arg
NM_001195800.2:c.314-2041G>C NP_001182729.1:n.314-2041G>C
NM_001195803.2:c.314-1214G>C NP_001182732.1:n.314-1214G>C
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