Canonical Allele Identifier: CA039203
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252262
dbSNP Id: rs5927

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123265A>G , CM000681.2:g.11123265A>G GRCh38
NC_000019.9:g.11233941A>G , CM000681.1:g.11233941A>G GRCh37
NC_000019.8:g.11094941A>G NCBI36
NG_009060.1:g.38885A>G , LRG_274:g.38885A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2490A>G ENSP00000252444.6:p.Arg830=
ENST00000559340.2:c.*301A>G ENSP00000453696.2:n.*301A>G
ENST00000560467.2:c.2112A>G ENSP00000453513.2:p.Arg704=
ENST00000558518.6:c.2232A>G MANE Select ENSP00000454071.1:p.Arg744=
ENST00000252444.9:c.2486A>G
ENST00000455727.6:c.1728A>G ENSP00000397829.2:p.Arg576=
ENST00000535915.5:c.2109A>G ENSP00000440520.1:p.Arg703=
ENST00000545707.5:c.1698A>G ENSP00000437639.1:p.Arg566=
ENST00000557933.5:c.2232A>G ENSP00000453557.1:p.Arg744=
ENST00000558013.5:c.2232A>G ENSP00000453346.1:p.Arg744=
ENST00000558518.5:c.2232A>G ENSP00000454071.1:p.Arg744=
NM_000527.4:c.2232A>G , LRG_274t1:c.2232A>G NP_000518.1:p.Arg744=
NM_001195798.1:c.2232A>G NP_001182727.1:p.Arg744=
NM_001195799.1:c.2109A>G NP_001182728.1:p.Arg703=
NM_001195800.1:c.1728A>G NP_001182729.1:p.Arg576=
NM_001195803.1:c.1698A>G NP_001182732.1:p.Arg566=
XM_011528010.1:c.2232A>G XP_011526312.1:p.Arg744=
XM_011528011.1:c.1851A>G XP_011526313.1:p.Arg617=
XR_244074.2:n.2242A>G
XM_011528010.2:c.2232A>G XP_011526312.1:p.Arg744=
XR_001753685.2:n.2566A>G
XR_001753686.2:n.2209A>G
NM_000527.5:c.2232A>G MANE Select NP_000518.1:p.Arg744=
NM_001195798.2:c.2232A>G NP_001182727.1:p.Arg744=
NM_001195799.2:c.2109A>G NP_001182728.1:p.Arg703=
NM_001195800.2:c.1728A>G NP_001182729.1:p.Arg576=
NM_001195803.2:c.1698A>G NP_001182732.1:p.Arg566=