Canonical Allele Identifier: CA505485428
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440619
ClinVar RCV Id: RCV000508890
dbSNP Id: rs1555804560

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110761A>C , CM000681.2:g.11110761A>C GRCh38
NC_000019.9:g.11221437A>C , CM000681.1:g.11221437A>C GRCh37
NC_000019.8:g.11082437A>C NCBI36
NG_009060.1:g.26381A>C , LRG_274:g.26381A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1308A>C ENSP00000252444.6:p.Arg436=
ENST00000559340.2:c.1050A>C ENSP00000453696.2:p.Arg350=
ENST00000560467.2:c.941-753A>C ENSP00000453513.2:n.941-753A>C
ENST00000558518.6:c.1050A>C MANE Select ENSP00000454071.1:p.Arg350=
ENST00000252444.9:c.1304A>C
ENST00000455727.6:c.546A>C ENSP00000397829.2:p.Arg182=
ENST00000535915.5:c.927A>C ENSP00000440520.1:p.Arg309=
ENST00000545707.5:c.669A>C ENSP00000437639.1:p.Arg223=
ENST00000557933.5:c.1050A>C ENSP00000453557.1:p.Arg350=
ENST00000558013.5:c.1050A>C ENSP00000453346.1:p.Arg350=
ENST00000558518.5:c.1050A>C ENSP00000454071.1:p.Arg350=
ENST00000560173.1:n.49A>C
ENST00000560467.1:c.541-753A>C
NM_000527.4:c.1050A>C , LRG_274t1:c.1050A>C NP_000518.1:p.Arg350=
NM_001195798.1:c.1050A>C NP_001182727.1:p.Arg350=
NM_001195799.1:c.927A>C NP_001182728.1:p.Arg309=
NM_001195800.1:c.546A>C NP_001182729.1:p.Arg182=
NM_001195803.1:c.669A>C NP_001182732.1:p.Arg223=
XM_011528010.1:c.1050A>C XP_011526312.1:p.Arg350=
XM_011528011.1:c.669A>C XP_011526313.1:p.Arg223=
XR_244074.2:n.1200A>C
XM_011528010.2:c.1050A>C XP_011526312.1:p.Arg350=
XR_001753685.2:n.1167A>C
XR_001753686.2:n.1167A>C
NM_000527.5:c.1050A>C MANE Select NP_000518.1:p.Arg350=
NM_001195798.2:c.1050A>C NP_001182727.1:p.Arg350=
NM_001195799.2:c.927A>C NP_001182728.1:p.Arg309=
NM_001195800.2:c.546A>C NP_001182729.1:p.Arg182=
NM_001195803.2:c.669A>C NP_001182732.1:p.Arg223=