Canonical Allele Identifier: CA10585075
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251385
ClinVar RCV Id: RCV000237689
dbSNP Id: rs879254636

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105583C>G , CM000681.2:g.11105583C>G GRCh38
NC_000019.9:g.11216259C>G , CM000681.1:g.11216259C>G GRCh37
NC_000019.8:g.11077259C>G NCBI36
NG_009060.1:g.21203C>G , LRG_274:g.21203C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.935C>G ENSP00000252444.6:p.Ser312Cys
ENST00000559340.2:c.677C>G ENSP00000453696.2:p.Ser226Cys
ENST00000560467.2:c.677C>G ENSP00000453513.2:p.Ser226Cys
ENST00000558518.6:c.677C>G MANE Select ENSP00000454071.1:p.Ser226Cys
ENST00000252444.9:c.931C>G
ENST00000455727.6:c.314-1809C>G ENSP00000397829.2:n.314-1809C>G
ENST00000535915.5:c.554C>G ENSP00000440520.1:p.Ser185Cys
ENST00000545707.5:c.314-982C>G ENSP00000437639.1:n.314-982C>G
ENST00000557933.5:c.677C>G ENSP00000453557.1:p.Ser226Cys
ENST00000558013.5:c.677C>G ENSP00000453346.1:p.Ser226Cys
ENST00000558518.5:c.677C>G ENSP00000454071.1:p.Ser226Cys
ENST00000560467.1:c.277C>G
NM_000527.4:c.677C>G , LRG_274t1:c.677C>G NP_000518.1:p.Ser226Cys
NM_001195798.1:c.677C>G NP_001182727.1:p.Ser226Cys
NM_001195799.1:c.554C>G NP_001182728.1:p.Ser185Cys
NM_001195800.1:c.314-1809C>G NP_001182729.1:n.314-1809C>G
NM_001195803.1:c.314-982C>G NP_001182732.1:n.314-982C>G
XM_011528010.1:c.677C>G XP_011526312.1:p.Ser226Cys
XM_011528011.1:c.314-982C>G XP_011526313.1:n.314-982C>G
XR_244074.2:n.827C>G
XM_011528010.2:c.677C>G XP_011526312.1:p.Ser226Cys
XR_001753685.2:n.794C>G
XR_001753686.2:n.794C>G
NM_000527.5:c.677C>G MANE Select NP_000518.1:p.Ser226Cys
NM_001195798.2:c.677C>G NP_001182727.1:p.Ser226Cys
NM_001195799.2:c.554C>G NP_001182728.1:p.Ser185Cys
NM_001195800.2:c.314-1809C>G NP_001182729.1:n.314-1809C>G
NM_001195803.2:c.314-982C>G NP_001182732.1:n.314-982C>G