Canonical Allele Identifier: CA404085720
Gene: LDLR HGNC NCBI

Linked Data

COSMIC: COSM5929903
MyVariant Identifiers: chr19:g.11224240C>T (hg19) chr19:g.11113564C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1646C>T ENSP00000252444.6:p.Ser549Phe
ENST00000559340.2:c.1388C>T ENSP00000453696.2:p.Ser463Phe
ENST00000560467.2:c.1268C>T ENSP00000453513.2:p.Ser423Phe
ENST00000558518.6:c.1388C>T MANE Select ENSP00000454071.1:p.Ser463Phe
ENST00000252444.9:c.1642C>T
ENST00000455727.6:c.884C>T ENSP00000397829.2:p.Ser295Phe
ENST00000535915.5:c.1265C>T ENSP00000440520.1:p.Ser422Phe
ENST00000545707.5:c.1007C>T ENSP00000437639.1:p.Ser336Phe
ENST00000557933.5:c.1388C>T ENSP00000453557.1:p.Ser463Phe
ENST00000558013.5:c.1388C>T ENSP00000453346.1:p.Ser463Phe
ENST00000558518.5:c.1388C>T ENSP00000454071.1:p.Ser463Phe
ENST00000559340.1:c.109C>T
ENST00000560467.1:c.868C>T
NM_000527.4:c.1388C>T , LRG_274t1:c.1388C>T NP_000518.1:p.Ser463Phe
NM_001195798.1:c.1388C>T NP_001182727.1:p.Ser463Phe
NM_001195799.1:c.1265C>T NP_001182728.1:p.Ser422Phe
NM_001195800.1:c.884C>T NP_001182729.1:p.Ser295Phe
NM_001195803.1:c.1007C>T NP_001182732.1:p.Ser336Phe
XM_011528010.1:c.1388C>T XP_011526312.1:p.Ser463Phe
XM_011528011.1:c.1007C>T XP_011526313.1:p.Ser336Phe
XR_244074.2:n.1538C>T
XM_011528010.2:c.1388C>T XP_011526312.1:p.Ser463Phe
XR_001753685.2:n.1505C>T
XR_001753686.2:n.1505C>T
NM_000527.5:c.1388C>T MANE Select NP_000518.1:p.Ser463Phe
NM_001195798.2:c.1388C>T NP_001182727.1:p.Ser463Phe
NM_001195799.2:c.1265C>T NP_001182728.1:p.Ser422Phe
NM_001195800.2:c.884C>T NP_001182729.1:p.Ser295Phe
NM_001195803.2:c.1007C>T NP_001182732.1:p.Ser336Phe
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