Canonical Allele Identifier: CA404080212
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430763
ClinVar RCV Id: RCV000495934
dbSNP Id: rs1131692200
MyVariant Identifiers: chr19:g.11217351G>A (hg19) chr19:g.11106675G>A (hg38)
ERepo: CA404080212/MONDO:0007750/013
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106675G>A , CM000681.2:g.11106675G>A GRCh38
NC_000019.9:g.11217351G>A , CM000681.1:g.11217351G>A GRCh37
NC_000019.8:g.11078351G>A NCBI36
NG_009060.1:g.22295G>A , LRG_274:g.22295G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1063G>A ENSP00000252444.6:p.Gly355Ser
ENST00000559340.2:c.805G>A ENSP00000453696.2:p.Gly269Ser
ENST00000560467.2:c.805G>A ENSP00000453513.2:p.Gly269Ser
ENST00000558518.6:c.805G>A MANE Select ENSP00000454071.1:p.Gly269Ser
ENST00000252444.9:c.1059G>A
ENST00000455727.6:c.314-717G>A ENSP00000397829.2:n.314-717G>A
ENST00000535915.5:c.682G>A ENSP00000440520.1:p.Gly228Ser
ENST00000545707.5:c.424G>A ENSP00000437639.1:p.Gly142Ser
ENST00000557933.5:c.805G>A ENSP00000453557.1:p.Gly269Ser
ENST00000558013.5:c.805G>A ENSP00000453346.1:p.Gly269Ser
ENST00000558518.5:c.805G>A ENSP00000454071.1:p.Gly269Ser
ENST00000558528.1:n.320G>A
ENST00000560467.1:c.405G>A
NM_000527.4:c.805G>A , LRG_274t1:c.805G>A NP_000518.1:p.Gly269Ser
NM_001195798.1:c.805G>A NP_001182727.1:p.Gly269Ser
NM_001195799.1:c.682G>A NP_001182728.1:p.Gly228Ser
NM_001195800.1:c.314-717G>A NP_001182729.1:n.314-717G>A
NM_001195803.1:c.424G>A NP_001182732.1:p.Gly142Ser
XM_011528010.1:c.805G>A XP_011526312.1:p.Gly269Ser
XM_011528011.1:c.424G>A XP_011526313.1:p.Gly142Ser
XR_244074.2:n.955G>A
XM_011528010.2:c.805G>A XP_011526312.1:p.Gly269Ser
XR_001753685.2:n.922G>A
XR_001753686.2:n.922G>A
NM_000527.5:c.805G>A MANE Select NP_000518.1:p.Gly269Ser
NM_001195798.2:c.805G>A NP_001182727.1:p.Gly269Ser
NM_001195799.2:c.682G>A NP_001182728.1:p.Gly228Ser
NM_001195800.2:c.314-717G>A NP_001182729.1:n.314-717G>A
NM_001195803.2:c.424G>A NP_001182732.1:p.Gly142Ser
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