Canonical Allele Identifier: CA404093642
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 979067
ClinVar RCV Id: RCV001258045
dbSNP Id: rs879255119
MyVariant Identifiers: chr19:g.11231103T>G (hg19) chr19:g.11120427T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120427T>G , CM000681.2:g.11120427T>G GRCh38
NC_000019.9:g.11231103T>G , CM000681.1:g.11231103T>G GRCh37
NC_000019.8:g.11092103T>G NCBI36
NG_009060.1:g.36047T>G , LRG_274:g.36047T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2303T>G ENSP00000252444.6:p.Leu768Arg
ENST00000559340.2:c.*114T>G ENSP00000453696.2:n.*114T>G
ENST00000560467.2:c.1925T>G ENSP00000453513.2:p.Leu642Arg
ENST00000558518.6:c.2045T>G MANE Select ENSP00000454071.1:p.Leu682Arg
ENST00000252444.9:c.2299T>G
ENST00000455727.6:c.1541T>G ENSP00000397829.2:p.Leu514Arg
ENST00000535915.5:c.1922T>G ENSP00000440520.1:p.Leu641Arg
ENST00000545707.5:c.1606+194T>G ENSP00000437639.1:n.1606+194T>G
ENST00000557933.5:c.2045T>G ENSP00000453557.1:p.Leu682Arg
ENST00000558013.5:c.2045T>G ENSP00000453346.1:p.Leu682Arg
ENST00000558518.5:c.2045T>G ENSP00000454071.1:p.Leu682Arg
NM_000527.4:c.2045T>G , LRG_274t1:c.2045T>G NP_000518.1:p.Leu682Arg
NM_001195798.1:c.2045T>G NP_001182727.1:p.Leu682Arg
NM_001195799.1:c.1922T>G NP_001182728.1:p.Leu641Arg
NM_001195800.1:c.1541T>G NP_001182729.1:p.Leu514Arg
NM_001195803.1:c.1606+194T>G NP_001182732.1:n.1606+194T>G
XM_011528010.1:c.2045T>G XP_011526312.1:p.Leu682Arg
XM_011528011.1:c.1664T>G XP_011526313.1:p.Leu555Arg
XR_244074.2:n.2055T>G
XM_011528010.2:c.2045T>G XP_011526312.1:p.Leu682Arg
XR_001753685.2:n.2162T>G
XR_001753686.2:n.2022T>G
NM_000527.5:c.2045T>G MANE Select NP_000518.1:p.Leu682Arg
NM_001195798.2:c.2045T>G NP_001182727.1:p.Leu682Arg
NM_001195799.2:c.1922T>G NP_001182728.1:p.Leu641Arg
NM_001195800.2:c.1541T>G NP_001182729.1:p.Leu514Arg
NM_001195803.2:c.1606+194T>G NP_001182732.1:n.1606+194T>G
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