Canonical Allele Identifier: CA404085317
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11224110A>C (hg19) chr19:g.11113434A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113434A>C , CM000681.2:g.11113434A>C GRCh38
NC_000019.9:g.11224110A>C , CM000681.1:g.11224110A>C GRCh37
NC_000019.8:g.11085110A>C NCBI36
NG_009060.1:g.29054A>C , LRG_274:g.29054A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1601A>C ENSP00000252444.6:p.Gln534Pro
ENST00000559340.2:c.1343A>C ENSP00000453696.2:p.Gln448Pro
ENST00000560467.2:c.1223A>C ENSP00000453513.2:p.Gln408Pro
ENST00000558518.6:c.1343A>C MANE Select ENSP00000454071.1:p.Gln448Pro
ENST00000252444.9:c.1597A>C
ENST00000455727.6:c.839A>C ENSP00000397829.2:p.Gln280Pro
ENST00000535915.5:c.1220A>C ENSP00000440520.1:p.Gln407Pro
ENST00000545707.5:c.962A>C ENSP00000437639.1:p.Gln321Pro
ENST00000557933.5:c.1343A>C ENSP00000453557.1:p.Gln448Pro
ENST00000558013.5:c.1343A>C ENSP00000453346.1:p.Gln448Pro
ENST00000558518.5:c.1343A>C ENSP00000454071.1:p.Gln448Pro
ENST00000559340.1:c.64A>C
ENST00000560173.1:n.342A>C
ENST00000560467.1:c.823A>C
NM_000527.4:c.1343A>C , LRG_274t1:c.1343A>C NP_000518.1:p.Gln448Pro
NM_001195798.1:c.1343A>C NP_001182727.1:p.Gln448Pro
NM_001195799.1:c.1220A>C NP_001182728.1:p.Gln407Pro
NM_001195800.1:c.839A>C NP_001182729.1:p.Gln280Pro
NM_001195803.1:c.962A>C NP_001182732.1:p.Gln321Pro
XM_011528010.1:c.1343A>C XP_011526312.1:p.Gln448Pro
XM_011528011.1:c.962A>C XP_011526313.1:p.Gln321Pro
XR_244074.2:n.1493A>C
XM_011528010.2:c.1343A>C XP_011526312.1:p.Gln448Pro
XR_001753685.2:n.1460A>C
XR_001753686.2:n.1460A>C
NM_000527.5:c.1343A>C MANE Select NP_000518.1:p.Gln448Pro
NM_001195798.2:c.1343A>C NP_001182727.1:p.Gln448Pro
NM_001195799.2:c.1220A>C NP_001182728.1:p.Gln407Pro
NM_001195800.2:c.839A>C NP_001182729.1:p.Gln280Pro
NM_001195803.2:c.962A>C NP_001182732.1:p.Gln321Pro
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