Canonical Allele Identifier: CA404085718
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224240C>G (hg19) chr19:g.11113564C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113564C>G , CM000681.2:g.11113564C>G GRCh38
NC_000019.9:g.11224240C>G , CM000681.1:g.11224240C>G GRCh37
NC_000019.8:g.11085240C>G NCBI36
NG_009060.1:g.29184C>G , LRG_274:g.29184C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1646C>G ENSP00000252444.6:p.Ser549Cys
ENST00000559340.2:c.1388C>G ENSP00000453696.2:p.Ser463Cys
ENST00000560467.2:c.1268C>G ENSP00000453513.2:p.Ser423Cys
ENST00000558518.6:c.1388C>G MANE Select ENSP00000454071.1:p.Ser463Cys
ENST00000252444.9:c.1642C>G
ENST00000455727.6:c.884C>G ENSP00000397829.2:p.Ser295Cys
ENST00000535915.5:c.1265C>G ENSP00000440520.1:p.Ser422Cys
ENST00000545707.5:c.1007C>G ENSP00000437639.1:p.Ser336Cys
ENST00000557933.5:c.1388C>G ENSP00000453557.1:p.Ser463Cys
ENST00000558013.5:c.1388C>G ENSP00000453346.1:p.Ser463Cys
ENST00000558518.5:c.1388C>G ENSP00000454071.1:p.Ser463Cys
ENST00000559340.1:c.109C>G
ENST00000560467.1:c.868C>G
NM_000527.4:c.1388C>G , LRG_274t1:c.1388C>G NP_000518.1:p.Ser463Cys
NM_001195798.1:c.1388C>G NP_001182727.1:p.Ser463Cys
NM_001195799.1:c.1265C>G NP_001182728.1:p.Ser422Cys
NM_001195800.1:c.884C>G NP_001182729.1:p.Ser295Cys
NM_001195803.1:c.1007C>G NP_001182732.1:p.Ser336Cys
XM_011528010.1:c.1388C>G XP_011526312.1:p.Ser463Cys
XM_011528011.1:c.1007C>G XP_011526313.1:p.Ser336Cys
XR_244074.2:n.1538C>G
XM_011528010.2:c.1388C>G XP_011526312.1:p.Ser463Cys
XR_001753685.2:n.1505C>G
XR_001753686.2:n.1505C>G
NM_000527.5:c.1388C>G MANE Select NP_000518.1:p.Ser463Cys
NM_001195798.2:c.1388C>G NP_001182727.1:p.Ser463Cys
NM_001195799.2:c.1265C>G NP_001182728.1:p.Ser422Cys
NM_001195800.2:c.884C>G NP_001182729.1:p.Ser295Cys
NM_001195803.2:c.1007C>G NP_001182732.1:p.Ser336Cys
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