Canonical Allele Identifier: CA404080270
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1066271
ClinVar RCV Id: RCV001377230
dbSNP Id: rs773328511
MyVariant Identifiers: chr19:g.11217356C>G (hg19) chr19:g.11106680C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106680C>G , CM000681.2:g.11106680C>G GRCh38
NC_000019.9:g.11217356C>G , CM000681.1:g.11217356C>G GRCh37
NC_000019.8:g.11078356C>G NCBI36
NG_009060.1:g.22300C>G , LRG_274:g.22300C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1068C>G ENSP00000252444.6:p.Cys356Trp
ENST00000559340.2:c.810C>G ENSP00000453696.2:p.Cys270Trp
ENST00000560467.2:c.810C>G ENSP00000453513.2:p.Cys270Trp
ENST00000558518.6:c.810C>G MANE Select ENSP00000454071.1:p.Cys270Trp
ENST00000252444.9:c.1064C>G
ENST00000455727.6:c.314-712C>G ENSP00000397829.2:n.314-712C>G
ENST00000535915.5:c.687C>G ENSP00000440520.1:p.Cys229Trp
ENST00000545707.5:c.429C>G ENSP00000437639.1:p.Cys143Trp
ENST00000557933.5:c.810C>G ENSP00000453557.1:p.Cys270Trp
ENST00000558013.5:c.810C>G ENSP00000453346.1:p.Cys270Trp
ENST00000558518.5:c.810C>G ENSP00000454071.1:p.Cys270Trp
ENST00000558528.1:n.325C>G
ENST00000560467.1:c.410C>G
NM_000527.4:c.810C>G , LRG_274t1:c.810C>G NP_000518.1:p.Cys270Trp
NM_001195798.1:c.810C>G NP_001182727.1:p.Cys270Trp
NM_001195799.1:c.687C>G NP_001182728.1:p.Cys229Trp
NM_001195800.1:c.314-712C>G NP_001182729.1:n.314-712C>G
NM_001195803.1:c.429C>G NP_001182732.1:p.Cys143Trp
XM_011528010.1:c.810C>G XP_011526312.1:p.Cys270Trp
XM_011528011.1:c.429C>G XP_011526313.1:p.Cys143Trp
XR_244074.2:n.960C>G
XM_011528010.2:c.810C>G XP_011526312.1:p.Cys270Trp
XR_001753685.2:n.927C>G
XR_001753686.2:n.927C>G
NM_000527.5:c.810C>G MANE Select NP_000518.1:p.Cys270Trp
NM_001195798.2:c.810C>G NP_001182727.1:p.Cys270Trp
NM_001195799.2:c.687C>G NP_001182728.1:p.Cys229Trp
NM_001195800.2:c.314-712C>G NP_001182729.1:n.314-712C>G
NM_001195803.2:c.429C>G NP_001182732.1:p.Cys143Trp
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